Variant #0000267092 (NC_000010.10:g.101486759C>T, COX15(NM_078470.4):c.548G>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101486759C>T
DNA change (hg38) g.99727002C>T
Published as COX15(NM_078470.4):c.548G>A (p.R183H)
ISCN -
DB-ID COX15_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00237 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 -/. - c.548G>A r.(?) p.(Arg183His)
CUTC NM_015960.2 -/. - c.-5347C>T r.(?) p.(=)
ENTPD7 NM_020354.3 -/. - c.*22319C>T r.(=) p.(=)
COX15 NM_078470.4 -/. - c.548G>A r.(?) p.(Arg183His)