chr16:88643570:G>A Detail (hg38) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,709,978-88,709,978 View the variant detail on this assembly version.
hg38 chr16:88,643,570-88,643,570

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.371C>T NP_000092.2:p.Ala124Val
Ensemble ENST00000261623.8:c.371C>T ENST00000261623.8:p.Ala124Val
ENST00000696156.1:c.287C>T ENST00000696156.1:p.Ala96Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000179)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Likely pathogenic 2024-01-03 criteria provided, single submitter Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative germline Detail
Pathogenic 2024-03-25 criteria provided, single submitter chronic granulomatous disease germline Detail
Pathogenic 2024-03-25 criteria provided, single submitter Polyglandular autoimmune syndrome, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Clinical, functional, and genetic characterization of chronic granulomatous dise... UNIPROT 23910690 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND not provided ClinVar Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Granulomatous disease, chronic, autosomal recessive, cy... ClinVar Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Chronic granulomatous disease ClinVar Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Polyglandular autoimmune syndrome, type 1 ClinVar Detail
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish pa... 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
rs179363894 dbSNP
Genome
hg38
Position
chr16:88,643,570-88,643,570
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser