chr16:88646773:C>T Detail (hg38) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,713,181-88,713,181 View the variant detail on this assembly version.
hg38 chr16:88,646,773-88,646,773

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.269G>A NP_000092.2:p.Arg90Gln
Ensemble ENST00000261623.8:c.269G>A ENST00000261623.8:p.Arg90Gln
ENST00000567174.5:c.269G>A ENST00000567174.5:p.Arg90Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv228909217 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-08-17 criteria provided, single submitter 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.269G>A (p.Arg90Gln) AND Granulomatous disease, chronic, autosomal recessive, cyt... 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
rs104894513 dbSNP
Genome
hg38
Position
chr16:88,646,773-88,646,773
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120622
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.290361625574107E-6
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