chr3:10146517:A>T Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,188,201-10,188,201 View the variant detail on this assembly version.
hg38 chr3:10,146,517-10,146,517

HGVS

Type Transcript Protein
RefSeq NM_198156.2:c.341-3270A>T
NM_000551.3:c.344A>T NP_000542.1:p.His115Leu
Ensemble ENST00000345392.3:c.341-3270A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM97144 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
0.658 Von Hippel-Lindau syndrome Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an im... BeFree 18836774 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate fo... 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
rs5030812 dbSNP
Genome
hg38
Position
chr3:10,146,517-10,146,517
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser