Variant #0000857319 (NC_000001.10:g.227172232C>T, NC_000001.10(NM_020247.4):c.1399-17C>T (ADCK3))

Chromosome 1
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.227172232C>T
DNA change (hg38) -
Published as COQ8A(NM_020247.5):c.1399-17C>T
ISCN -
DB-ID ADCK3_000076
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADCK3 NM_020247.4 -?/. - c.1399-17C>T r.(=) p.(=)


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