chr12:6021960:C>A Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,131,126-6,131,126 View the variant detail on this assembly version.
hg38 chr12:6,021,960-6,021,960

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.3614G>T NP_000543.2:p.Arg1205Leu
Ensemble ENST00000261405.10:c.3614G>T ENST00000261405.10:p.Arg1205Leu
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 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
Likely pathogenic 2022-12-22 criteria provided, single submitter VWF-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.243 von Willebrand disease type 2M Factor VIII and von Willebrand factor changes after desmopressin and during preg... BeFree 16420565 Detail
0.250 von Willebrand Disease It was the aim of the present study to prospectively evaluate clinical events of... BeFree 21264446 Detail
<0.001 von Willebrand disease type 2M Factor VIII and von Willebrand factor changes after desmopressin and during preg... BeFree 16420565 Detail
0.589 von Willebrand Disease, Type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) AND not provided ClinVar Detail
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) AND VWF-related disorder ClinVar Detail
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von... DisGeNET Detail
It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous pat... DisGeNET Detail
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von... DisGeNET 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
rs121964895 dbSNP
Genome
hg38
Position
chr12:6,021,960-6,021,960
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser