chr16:88709782:C>T Detail (hg19) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,709,782-88,709,782
hg38 chr16:88,643,374-88,643,374 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.567G>A NP_000092.2:p.Pro189=
Ensemble ENST00000696159.1:c.*490G>A
ENST00000696160.1:c.594G>A ENST00000696160.1:p.Pro198=
Summary

MGeND

Clinical significance
Variant entry
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:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv56585005 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-11 criteria provided, single submitter Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative germline Detail
Uncertain significance 2020-01-17 no assertion criteria provided chronic granulomatous disease germline Detail
Likely benign 2019-12-20 criteria provided, single submitter CYBA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.567G>A (p.Pro189=) AND Granulomatous disease, chronic, autosomal recessive, cyto... ClinVar Detail
NM_000101.4(CYBA):c.567G>A (p.Pro189=) AND Chronic granulomatous disease ClinVar Detail
NM_000101.4(CYBA):c.567G>A (p.Pro189=) AND CYBA-related disorder ClinVar 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
rs1407529453 dbSNP
Genome
hg19
Position
chr16:88,709,782-88,709,782
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))
rs1407529453
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))
7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
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