Genomic variant #0000560307

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13980185C>T
DNA change (hg38) -
Published as COX10(NM_001303.3):c.311C>T (p.P104L)
ISCN -
DB-ID COX10_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COX10 NM_001303.3 -?/. - c.311C>T likely benign r.(?) p.(Pro104Leu)