chr3:10183457:CGCACGCAGCTCCGCCCCGCG> Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,457-10,183,477
hg38 chr3:10,141,773-10,141,793 

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.-70-5_-55delCGCACGCAGCTCCGCCCCGCG
NM_198156.2:c.-60-15_-55delCGCACGCAGCTCCGCCCCGCG
Ensemble ENST00000256474.3:c.-70-5_-55delCGCACGCAGCTCCGCCCCGCG
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 2014-12-09 criteria provided, single submitter Von Hippel-Lindau syndrome 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_000551.3(VHL):c.-75_-55del AND Von Hippel-Lindau 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
rs727503744 dbSNP
Genome
hg19
Position
chr3:10,183,457-10,183,477
Variant Type
snv
Reference Allele
CGCACGCAGCTCCGCCCCGCG
Alternative Allele
-
Genome browser