chr10:121520160:G>C Detail (hg38) (FGFR2)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:123,279,674-123,279,674 View the variant detail on this assembly version.
hg38	chr10:121,520,160-121,520,160

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144916.1:c.413C>G	NP_001138388.1:p.Pro138Arg
	NM_001144918.1:c.413C>G	NP_001138390.1:p.Pro138Arg
	NM_001144915.1:c.491C>G	NP_001138387.1:p.Pro164Arg
	NM_000141.4:c.758C>G	NP_000132.3:p.Pro253Arg
	NM_001144919.1:c.491C>G	NP_001138391.1:p.Pro164Arg
	NM_001144913.1:c.758C>G	NP_001138385.1:p.Pro253Arg
	NM_001144917.1:c.758C>G	NP_001138389.1:p.Pro253Arg
	NM_001144914.1:c.749-4841C>G
	NM_022970.3:c.758C>G	NP_075259.4:p.Pro253Arg
	NM_001320654.1:c.74C>G	NP_001307583.1:p.Pro25Arg
	NM_001320658.1:c.491C>G	NP_001307587.1:p.Pro164Arg
	NM_023029.2:c.491C>G	NP_075418.1:p.Pro164Arg
Ensemble	ENST00000346997.6:c.758C>G	ENST00000346997.6:p.Pro253Arg
	ENST00000351936.11:c.758C>G	ENST00000351936.11:p.Pro253Arg
	ENST00000356226.8:c.413C>G	ENST00000356226.8:p.Pro138Arg
	ENST00000357555.9:c.491C>G	ENST00000357555.9:p.Pro164Arg
	ENST00000358487.10:c.758C>G	ENST00000358487.10:p.Pro253Arg
	ENST00000360144.7:c.491C>G	ENST00000360144.7:p.Pro164Arg
	ENST00000369056.5:c.758C>G	ENST00000369056.5:p.Pro253Arg
	ENST00000369059.5:c.413C>G	ENST00000369059.5:p.Pro138Arg
	ENST00000369060.8:c.758C>G	ENST00000369060.8:p.Pro253Arg
	ENST00000369061.8:c.749-4841C>G
	ENST00000457416.7:c.758C>G	ENST00000457416.7:p.Pro253Arg
	ENST00000478859.5:c.74C>G	ENST00000478859.5:p.Pro25Arg
	ENST00000613048.4:c.491C>G	ENST00000613048.4:p.Pro164Arg
	ENST00000638709.2:c.-413C>G
	ENST00000682550.1:c.413C>G	ENST00000682550.1:p.Pro138Arg
	ENST00000682772.1:c.-413C>G
	ENST00000683211.1:c.758C>G	ENST00000683211.1:p.Pro253Arg
	ENST00000684153.1:c.413C>G	ENST00000684153.1:p.Pro138Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

FGFR2

Type	Database	ID	Link
Gene	MIM	176943	OMIM
	HGNC	3689	HGNC
	Ensembl	ENSG00000066468	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5575603	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-09-01	criteria provided, multiple submitters, no conflicts	Acrocephalosyndactyly type I	germline	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	Head and neck neoplasm	somatic	Detail
Pathogenic Likely pathogenic	2023-04-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-01-09	criteria provided, single submitter	FGFR2-related craniosynostosis	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Bent bone dysplasia syndrome 1,Neoplasm of stomach,Jackson-Weiss syndrome,Pfeiffer syndrome,Crouzon syndrome,Levy-Hollister syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Acrocephalosyndactyly type I	unknown	Detail
Pathogenic	2016-01-01	criteria provided, single submitter	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Pathogenic	2023-12-27	criteria provided, single submitter	FGFR2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.030	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
<0.001	Apert syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.001	Apert syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.001	Pfeiffer syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.160	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
0.001	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.014	craniosynostosis	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both...	BeFree	11277076	Detail
0.204	Pfeiffer syndrome	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.004	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGF...	BeFree	11596961	Detail
0.332	Pfeiffer syndrome	We analyzed cell proliferation and differentiation in osteoblasts obtained from ...	BeFree	10329600	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	We analyzed cell proliferation and differentiation in osteoblasts obtained from ...	BeFree	10329600	Detail
0.455	Apert syndrome	NA	CLINVAR		Detail
<0.001	Muenke Syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.332	Pfeiffer syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.564	Muenke Syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.455	Apert syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
<0.001	Muenke Syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.001	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.001	Pfeiffer syndrome	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.010	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer...	BeFree	14613973	Detail
0.455	Apert syndrome	Apert syndrome results almost exclusively from one of two point mutations (Ser25...	BeFree	18215098	Detail
0.455	Apert syndrome	Our results confirm a strong correspondence between genotype and facial phenotyp...	BeFree	24578066	Detail
0.455	Apert syndrome	The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G tr...	BeFree	17243131	Detail
0.160	craniosynostosis	Apert syndrome is an autosomal dominant disease characterized by craniosynostosi...	BeFree	15310757	Detail
0.455	Apert syndrome	A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skele...	BeFree	18242159	Detail
<0.001	Apert syndrome	The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates th...	BeFree	14613973	Detail
<0.001	Apert syndrome	The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates th...	BeFree	14613973	Detail
0.455	Apert syndrome	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused b...	BeFree	11277076	Detail
0.455	Apert syndrome	Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes i...	BeFree	23915865	Detail
0.455	Apert syndrome	Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are respon...	BeFree	18632557	Detail
0.455	Apert syndrome	Most interestingly a case of early-onset papillary carcinoma of the bladder show...	BeFree	24817968	Detail
<0.001	Carcinoma, Papillary	Our data demonstrate that the recently reported association between early-onset ...	BeFree	24817968	Detail
0.455	Apert syndrome	We have identified specific missense substitutions involving adjacent amino acid...	BeFree	7719344	Detail
0.160	craniosynostosis	Apert syndrome is one of the most severe craniosynostosis that is mainly caused ...	BeFree	18242159	Detail
0.005	syndactyly	Apert syndrome is an autosomal dominant disease characterized by craniosynostosi...	BeFree	15310757	Detail
0.002	Congenital Abnormality	A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skele...	BeFree	18242159	Detail
0.455	Apert syndrome	p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the ...	BeFree	23546041	Detail
<0.001	strabismus	There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp m...	BeFree	17251833	Detail
0.005	syndactyly	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused b...	BeFree	11277076	Detail
0.160	craniosynostosis	Here we investigate growth of the skull in two inbred mouse models each carrying...	BeFree	24580805	Detail
<0.001	Congenital premature fusion	Our data indicated that the P253R mutation in Fgfr2 directly affect intramembran...	BeFree	18242159	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND Acrocephalosyndactyly type I	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND Head and neck neoplasm	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND FGFR2-related craniosynostosis	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND Antley-Bixler syndrome without genital anomalies or di...	ClinVar	Detail
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) AND FGFR2-related disorder	ClinVar	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, an...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is inv...	DisGeNET	Detail
We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three ...	DisGeNET	Detail
We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three ...	DisGeNET	Detail
NA	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ...	DisGeNET	Detail
Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) i...	DisGeNET	Detail
Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with...	DisGeNET	Detail
The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253...	DisGeNET	Detail
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyl...	DisGeNET	Detail
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mim...	DisGeNET	Detail
The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced liga...	DisGeNET	Detail
The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced liga...	DisGeNET	Detail
Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitut...	DisGeNET	Detail
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affect...	DisGeNET	Detail
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually ...	DisGeNET	Detail
Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253...	DisGeNET	Detail
Our data demonstrate that the recently reported association between early-onset papillary carcinoma ...	DisGeNET	Detail
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro...	DisGeNET	Detail
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Tr...	DisGeNET	Detail
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyl...	DisGeNET	Detail
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mim...	DisGeNET	Detail
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and m...	DisGeNET	Detail
There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more fre...	DisGeNET	Detail
Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitut...	DisGeNET	Detail
Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-...	DisGeNET	Detail
Our data indicated that the P253R mutation in Fgfr2 directly affect intramembranous and endochondral...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs77543610 dbSNP
Genome: hg38
Position: chr10:121,520,160-121,520,160
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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