chr10:123279651:C>T Detail (hg19) (FGFR2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr10:123,279,651-123,279,651
hg38	chr10:121,520,137-121,520,137 View the variant detail on this assembly version.

HGVS

FGFR2

Type	Transcript	Protein
RefSeq	NM_001144915.1:c.514G>A	NP_001138387.1:p.Gly172Arg
	NM_001144914.1:c.749-4818G>A
	NM_001144916.1:c.436G>A	NP_001138388.1:p.Gly146Arg
	NM_001144918.1:c.436G>A	NP_001138390.1:p.Gly146Arg
	NM_022970.3:c.781G>A	NP_075259.4:p.Gly261Arg
	NM_001320658.1:c.514G>A	NP_001307587.1:p.Gly172Arg
	NM_023029.2:c.514G>A	NP_075418.1:p.Gly172Arg
	NM_001320654.1:c.97G>A	NP_001307583.1:p.Gly33Arg
	NM_001144913.1:c.781G>A	NP_001138385.1:p.Gly261Arg
	NM_000141.4:c.781G>A	NP_000132.3:p.Gly261Arg
	NM_001144917.1:c.781G>A	NP_001138389.1:p.Gly261Arg
	NM_001144919.1:c.514G>A	NP_001138391.1:p.Gly172Arg
Ensemble	ENST00000357555.9:c.514G>A	ENST00000357555.9:p.Gly172Arg
	ENST00000683211.1:c.781G>A	ENST00000683211.1:p.Gly261Arg
	ENST00000682772.1:c.-390G>A
	ENST00000369061.8:c.749-4818G>A
	ENST00000346997.6:c.781G>A	ENST00000346997.6:p.Gly261Arg
	ENST00000356226.8:c.436G>A	ENST00000356226.8:p.Gly146Arg
	ENST00000684153.1:c.436G>A	ENST00000684153.1:p.Gly146Arg
	ENST00000457416.7:c.781G>A	ENST00000457416.7:p.Gly261Arg
	ENST00000613048.4:c.514G>A	ENST00000613048.4:p.Gly172Arg
	ENST00000682550.1:c.436G>A	ENST00000682550.1:p.Gly146Arg
	ENST00000478859.5:c.97G>A	ENST00000478859.5:p.Gly33Arg
	ENST00000638709.2:c.-390G>A
	ENST00000369056.5:c.781G>A	ENST00000369056.5:p.Gly261Arg
	ENST00000369059.5:c.436G>A	ENST00000369059.5:p.Gly146Arg
	ENST00000358487.10:c.781G>A	ENST00000358487.10:p.Gly261Arg
	ENST00000369060.8:c.781G>A	ENST00000369060.8:p.Gly261Arg
	ENST00000351936.11:c.781G>A	ENST00000351936.11:p.Gly261Arg
	ENST00000360144.7:c.514G>A	ENST00000360144.7:p.Gly172Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-10-01	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail
Uncertain significance	2022-05-12	criteria provided, single submitter	Bent bone dysplasia syndrome 1,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Levy-Hollister syndrome,Acrocephalosyndactyly type I,Gastric cancer,Crouzon syndrome,Jackson-Weiss syndrome,Pfeiffer syndrome,Beare-Stevenson cutis gyrata syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND not provided	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	Detail
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND multiple conditions	ClinVar	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: rs2134317947 dbSNP
Genome: hg19
Position: chr10:123,279,651-123,279,651
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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