chr12:6153612:T>C Detail (hg19) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,153,612-6,153,612
hg38 chr12:6,044,446-6,044,446 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.2287A>G NP_000543.2:p.Arg763Gly
Ensemble ENST00000261405.10:c.2287A>G ENST00000261405.10:p.Arg763Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 613160 OMIM
HGNC 12726 HGNC
Ensembl ENSG00000110799 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
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.246 von Willebrand Disease, Type 2N Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a no... BeFree 16953269 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.2287A>G (p.Arg763Gly) AND not provided ClinVar Detail
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation a... 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
rs61748469 dbSNP
Genome
hg19
Position
chr12:6,153,612-6,153,612
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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