chr3:10142188:G>C Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,872-10,183,872 View the variant detail on this assembly version.
hg38 chr3:10,142,188-10,142,188

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.340+1G>C
NM_198156.2:c.340+1G>C
Ensemble ENST00000256474.3:c.340+1G>C
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 COSM479170 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-02-04 criteria provided, single submitter Von Hippel-Lindau syndrome germline Detail
Pathogenic 2021-08-09 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2021-08-09 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
not provided no assertion provided not provided somatic 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.340+1G>C AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.340+1G>C AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.340+1G>C AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.340+1G>C AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs730882032 dbSNP
Genome
hg38
Position
chr3:10,142,188-10,142,188
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser