chr16:88643568:C>T Detail (hg38) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,709,976-88,709,976 View the variant detail on this assembly version.
hg38 chr16:88,643,568-88,643,568

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.373G>A NP_000092.2:p.Ala125Thr
Ensemble ENST00000261623.8:c.373G>A ENST00000261623.8:p.Ala125Thr
ENST00000696156.1:c.289G>A ENST00000696156.1:p.Ala97Thr
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 608508 OMIM
HGNC 2577 HGNC
Ensembl ENSG00000051523 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 2008-06-01 no assertion criteria provided Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) AND Granulomatous disease, chronic, autosomal recessive, cy... 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
rs119103269 dbSNP
Genome
hg38
Position
chr16:88,643,568-88,643,568
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser