chr3:10188228:C>T Detail (hg19) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,188,228-10,188,228
hg38 chr3:10,146,544-10,146,544 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.371C>T NP_000542.1:p.Thr124Ile
NM_198156.2:c.341-3243C>T
Ensemble ENST00000256474.3:c.371C>T ENST00000256474.3:p.Thr124Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter Von Hippel-Lindau syndrome germline Detail
Likely pathogenic 2017-01-23 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.371C>T (p.Thr124Ile) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) 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
rs193922610 dbSNP
Genome
hg19
Position
chr3:10,188,228-10,188,228
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
T124I (c.371C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2054
Genome browser