chr16:88648103:C>T Detail (hg38) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,714,511-88,714,511 View the variant detail on this assembly version.
hg38 chr16:88,648,103-88,648,103

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.70G>A NP_000092.2:p.Gly24Arg
Ensemble ENST00000261623.8:c.70G>A ENST00000261623.8:p.Gly24Arg
ENST00000567174.5:c.70G>A ENST00000567174.5:p.Gly24Arg
Summary

MGeND

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

Frequency

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

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 tgv56585436 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
Pathogenic Likely pathogenic 2023-11-09 criteria provided, multiple submitters, no conflicts Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative germline unknown Detail
Pathogenic 2021-02-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2020-09-16 no assertion criteria provided chronic granulomatous disease 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
0.360 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) AND Granulomatous disease, chronic, autosomal recessive, cyto... ClinVar Detail
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) AND not provided ClinVar Detail
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) AND Chronic granulomatous disease ClinVar Detail
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish pa... DisGeNET 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
rs28941476 dbSNP
Genome
hg38
Position
chr16:88,648,103-88,648,103
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs28941476
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7336
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)
101462
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.971181328970452E-5
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