chr3:10149937:GC> Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,191,621-10,191,622 
hg38 chr3:10,149,937-10,149,938

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.614_615delGC NP_000542.1:p.Arg205HisfsTer50
NM_198156.2:c.491_492delGC NP_937799.1:p.Arg164HisfsTer50
Ensemble ENST00000256474.3:c.614_615delGC ENST00000256474.3:p.Arg205HisfsTer50
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608537 OMIM
HGNC 12687 HGNC
Ensembl ENSG00000134086 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM249403 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs730882030 dbSNP
Genome
hg38
Position
chr3:10,149,937-10,149,938
Variant Type
snv
Reference Allele
GC
Alternative Allele
-
Genome browser