Variant #0000867244 (NC_000023.10:g.1719950C>T, AKAP17A(NM_005088.2):c.1551C>T)

Chromosome X
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.1719950C>T
DNA change (hg38) -
Published as AKAP17A(NM_005088.2):c.1551C>T (p.A517=)
ISCN -
DB-ID AKAP17A_000023
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) 0.00022 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 16:01:56 +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     
ASMT NM_004043.2 -?/. - c.-68+5525C>T r.(=) p.(=)
AKAP17A NM_005088.2 -?/. - c.1551C>T r.(?) p.(Ala517=)