chr3:10146517:A>C Detail (hg38) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,188,201-10,188,201 View the variant detail on this assembly version.
hg38 chr3:10,146,517-10,146,517

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.344A>C NP_000542.1:p.His115Pro
NM_198156.2:c.341-3270A>C
Ensemble ENST00000256474.3:c.344A>C ENST00000256474.3:p.His115Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 COSM17962 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-09-16 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2018-10-16 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 4 17024664 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
0.658 Von Hippel-Lindau syndrome Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an im... BeFree 18836774 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ... CIViC Evidence Detail
NM_000551.4(VHL):c.344A>C (p.His115Pro) AND not provided ClinVar Detail
NM_000551.4(VHL):c.344A>C (p.His115Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate fo... 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
rs5030812 dbSNP
Genome
hg38
Position
chr3:10,146,517-10,146,517
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
H115P (c.344A>C)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1885
Genome browser