chr3:10183750:GG> Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,750-10,183,751
hg38 chr3:10,142,066-10,142,067 

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.219_220delGG NP_000542.1:p.Gln73HisfsTer58
NM_198156.2:c.219_220delGG NP_937799.1:p.Gln73HisfsTer59
Ensemble ENST00000256474.3:c.219_220delGG ENST00000256474.3:p.Gln73HisfsTer58
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 COSM6023912 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-08-12 criteria provided, single submitter Hereditary cancer-predisposing 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.219_220del (p.Gln73fs) AND Hereditary cancer-predisposing 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
rs730882039 dbSNP
Genome
hg19
Position
chr3:10,183,750-10,183,751
Variant Type
snv
Reference Allele
GG
Alternative Allele
-
Genome browser