chr3:10188265:T> Detail (hg19) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,188,265-10,188,265
hg38 chr3:10,146,581-10,146,581 

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.408delT NP_000542.1:p.Phe136LeufsTer23
NM_198156.2:c.341-3206delT
Ensemble ENST00000713811.1:c.408delT ENST00000713811.1:p.Phe136LeufsTer117
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 COSM17764 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-25 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline Detail
Pathogenic 2016-11-22 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.408del (p.Phe136fs) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.408del (p.Phe136fs) 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
rs397516442 dbSNP
Genome
hg19
Position
chr3:10,188,265-10,188,265
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser