chr16:88713557:A>G Detail (hg19) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,713,557-88,713,557
hg38 chr16:88,647,149-88,647,149 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.155T>C NP_000092.2:p.Leu52Pro
Ensemble ENST00000696163.1:c.155T>C ENST00000696163.1:p.Leu52Pro
ENST00000696159.1:c.155T>C ENST00000696159.1:p.Leu52Pro
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 2015-05-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Molecular analysis of 9 new families with chronic granulomatous disease caused b... UNIPROT 10910929 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) AND not provided ClinVar Detail
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA,... 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
rs179363890 dbSNP
Genome
hg19
Position
chr16:88,713,557-88,713,557
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser