Variant #0000647818 (NC_000010.10:g.101486775G>A, COX15(NM_078470.4):c.532C>T)

Individual ID 00289961
Chromosome 10
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101486775G>A
DNA change (hg38) g.99727018G>A
Published as -
ISCN -
DB-ID COX15_000020
Variant remarks 14 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs192078749
Origin Germline
Segregation -
Frequency 14/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00043 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 ?/. - c.532C>T r.(?) p.(Arg178Cys)
COX15 NM_078470.4 ?/. - c.532C>T r.(?) p.(Arg178Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291129 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq