chr3:10142027:G> Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,711-10,183,711 
hg38 chr3:10,142,027-10,142,027

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.180delG NP_000542.1:p.Val62CysfsTer5
NM_198156.2:c.180delG NP_937799.1:p.Val62CysfsTer5
Ensemble ENST00000256474.3:c.180delG ENST00000256474.3:p.Val62CysfsTer5
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM18127 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-03 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-09-17 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2023-09-17 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau 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 7728151 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 9829912 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec... CIViC Evidence Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... CIViC Evidence Detail
NM_000551.4(VHL):c.180del (p.Val62fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.180del (p.Val62fs) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.180del (p.Val62fs) AND multiple conditions 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
rs730882037 dbSNP
Genome
hg38
Position
chr3:10,142,027-10,142,027
Variant Type
snv
Reference Allele
G
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
V62C (c.180delG)
Transcript 1 (CIViC Variant)
ENST
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1750
Variant (CIViC) (CIViC Variant)
R60FS (c.179delG)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1964
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