Variant #0000538848 (NC_000010.10:g.101486855G>C, COX15(NM_078470.4):c.452C>G)

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.101486855G>C
DNA change (hg38) g.99727098G>C
Published as COX15(NM_078470.4):c.452C>G (p.S151*)
ISCN -
DB-ID COX15_000009 See all 4 reported entries
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) 0.00024 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 ?/. - c.452C>G r.(?) p.(Ser151Ter)
CUTC NM_015960.2 ?/. - c.-5251G>C r.(?) p.(=)
ENTPD7 NM_020354.3 ?/. - c.*22415G>C r.(=) p.(=)
COX15 NM_078470.4 ?/. - c.452C>G r.(?) p.(Ser151Ter)