Variant #0000538845 (NC_000010.10:g.101483799G>A, COX15(NM_078470.4):c.664C>T)

Chromosome 10
Allele Unknown
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.101483799G>A
DNA change (hg38) g.99724042G>A
Published as COX15(NM_078470.4):c.664C>T (p.R222C)
ISCN -
DB-ID COX15_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00053 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 ?/. - c.664C>T r.(?) p.(Arg222Cys)
CUTC NM_015960.2 ?/. - c.-8307G>A r.(?) p.(=)
ENTPD7 NM_020354.3 ?/. - c.*19359G>A r.(=) p.(=)
COX15 NM_078470.4 ?/. - c.664C>T r.(?) p.(Arg222Cys)