chr3:10183776:G>C Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,776-10,183,776
hg38 chr3:10,142,092-10,142,092 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.245G>C NP_000542.1:p.Arg82Pro
NM_198156.2:c.245G>C NP_937799.1:p.Arg82Pro
Ensemble ENST00000256474.3:c.245G>C ENST00000256474.3:p.Arg82Pro
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 608537 OMIM
HGNC 12687 HGNC
Ensembl ENSG00000134086 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM14382 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-02-14 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline Detail
Pathogenic 2014-12-02 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) AND not provided 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
rs794726890 dbSNP
Genome
hg19
Position
chr3:10,183,776-10,183,776
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
R82P (c.245G>C)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1980
Genome browser