chr3:46995743:A>T Detail (hg38) (NBEAL2)

Information

Genome

Assembly Position
hg19 chr3:47,037,233-47,037,233 View the variant detail on this assembly version.
hg38 chr3:46,995,743-46,995,743

HGVS

Type Transcript Protein
RefSeq NM_015175.2:c.1928A>T NP_055990.1:p.Glu643Val
Ensemble ENST00000450053.8:c.1928A>T ENST00000450053.8:p.Glu643Val
ENST00000651747.1:c.1826A>T ENST00000651747.1:p.Glu609Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 614169 OMIM
HGNC 31928 HGNC
Ensembl ENSG00000160796 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
Pathogenic 2011-07-17 no assertion criteria provided gray platelet syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.561 gray platelet syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) AND Gray platelet 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
rs387907114 dbSNP
Genome
hg38
Position
chr3:46,995,743-46,995,743
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser