Variant #0000722627 (NC_000010.10:g.101458591del, COX15(NM_078470.4):c.*15755del)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101458591del
DNA change (hg38) -
Published as COX15(NM_001320974.1):c.1102-2291delC
ISCN -
DB-ID COX15_000021
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 -?/. - c.*14582del r.(?) p.(=)
CUTC NM_015960.2 -?/. - c.-33515del r.(?) p.(=)
ENTPD7 NM_020354.3 -?/. - c.1311del r.(?) p.(Pro438Glnfs*18)
COX15 NM_078470.4 -?/. - c.*15755del r.(?) p.(=)