Variant #0000678746 (NC_000010.10:g.101473218A>G, COX15(NM_078470.4):c.*1126T>C)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101473218A>G
DNA change (hg38) -
Published as COX15(NM_004376.5):c.1120T>C (p.F374L)
ISCN -
DB-ID COX15_000011 See all 2 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) 0.86456 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX15 NM_004376.5 -/. - c.1120T>C r.(?) p.(Phe374Leu)
CUTC NM_015960.2 -/. - c.-18888A>G r.(?) p.(=)
ENTPD7 NM_020354.3 -/. - c.*8778A>G r.(=) p.(=)
COX15 NM_078470.4 -/. - c.*1126T>C r.(=) p.(=)