chr7:116782048:C>G Detail (hg38) (MET)

Information

Genome

Assembly Position
hg19 chr7:116,422,102-116,422,102 View the variant detail on this assembly version.
hg38 chr7:116,782,048-116,782,048

HGVS

Type Transcript Protein
RefSeq NM_001127500.2:c.3637C>G NP_001120972.1:p.Leu1213Val
NM_000245.3:c.3583C>G NP_000236.2:p.Leu1195Val
NM_001324402.1:c.3583C>G NP_001311331.1:p.Leu1195Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM688 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-05-01 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.253 renal cell carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) AND Papillary renal cell carcinoma type 1 ClinVar 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
rs121913673 dbSNP
Genome
hg38
Position
chr7:116,782,048-116,782,048
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser