chr3:10142039:C> Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,723-10,183,723 
hg38 chr3:10,142,039-10,142,039

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.192delC NP_000542.1:p.Ser65ArgfsTer2
NM_198156.2:c.192delC NP_937799.1:p.Ser65ArgfsTer2
Ensemble ENST00000256474.3:c.192delC ENST00000256474.3:p.Ser65ArgfsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-25 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-02-03 criteria provided, single submitter Von Hippel-Lindau syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000551.4(VHL):c.192del (p.Ser65fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.192del (p.Ser65fs) AND Von Hippel-Lindau syndrome 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
rs730882031 dbSNP
Genome
hg38
Position
chr3:10,142,039-10,142,039
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser