chr7:116417464:A>C Detail (hg19) (MET)

Information

Genome

Assembly Position
hg19 chr7:116,417,464-116,417,464
hg38 chr7:116,777,410-116,777,410 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127500.2:c.3335A>C NP_001120972.1:p.His1112Pro
NM_000245.3:c.3281A>C NP_000236.2:p.His1094Pro
NM_001324402.1:c.3281A>C NP_001311331.1:p.His1094Pro
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
Type Database ID Link
Gene MIM 164860 OMIM
HGNC 7029 HGNC
Ensembl ENSG00000105976 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 2024-02-06 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 hereditary renal cell carcinoma Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose ... BeFree 12460923 Detail
0.253 renal cell carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000245.4(MET):c.3281A>C (p.His1094Pro) AND not specified ClinVar Detail
Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose to hereditary renal ... DisGeNET Detail
NA 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
rs121913243 dbSNP
Genome
hg19
Position
chr7:116,417,464-116,417,464
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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