Genomic variant #0000249382

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.101486833A>G
DNA change (hg38) g.99727076A>G
Published as COX15(NM_078470.4):c.474T>C (p.L158=)
ISCN -
DB-ID COX15_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00069 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 -?/. - c.474T>C r.(?) p.(Leu158=)
CUTC NM_015960.2 -?/. - c.-5273A>G r.(?) p.(=)
ENTPD7 NM_020354.3 -?/. - c.*22393A>G r.(=) p.(=)
COX15 NM_078470.4 -?/. - c.474T>C r.(?) p.(Leu158=)