Variant #0000669041 (NC_000010.10:g.101469354T>C, COX15(NM_078470.4):c.*4990A>G)

Individual ID 00304224
Chromosome 10
Allele Both (homozygous)
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.101469354T>C
DNA change (hg38) g.99709597T>C
Published as -
ISCN -
DB-ID COX15_000019 See all 2 reported entries
Variant remarks 3 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs76530337
Origin Germline
Segregation -
Frequency 3/2786 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 ?/. - c.*3817A>G r.(=) p.(=)
ENTPD7 NM_020354.3 ?/. - c.*4914T>C r.(=) p.(=)
COX15 NM_078470.4 ?/. - c.*4990A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305353 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq