Genomic variant #0000538843

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.101464280A>C
DNA change (hg38) -
Published as ENTPD7(NM_020354.3):c.1655A>C (p.(Tyr552Ser))
ISCN -
DB-ID COX15_000010
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COX15 NM_004376.5 ?/. - c.*8891T>G VUS r.(=) p.(=)
CUTC NM_015960.2 ?/. - c.-27826A>C VUS r.(?) p.(=)
ENTPD7 NM_020354.3 ?/. - c.1655A>C VUS r.(?) p.(Tyr552Ser)
COX15 NM_078470.4 ?/. - c.*10064T>G VUS r.(=) p.(=)