chr10:121520137:C>T Detail (hg38) (FGFR2)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001144916.1:c.436G>A NP_001138388.1:p.Gly146Arg
NM_001144918.1:c.436G>A NP_001138390.1:p.Gly146Arg
NM_001144915.1:c.514G>A NP_001138387.1:p.Gly172Arg
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
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

DescrptionSourceLinks
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
hg38
Position
chr10:121,520,137-121,520,137
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser