Variant #0000393316 (NC_000023.10:g.1712940C>T, AKAP17A(NM_005088.2):c.585C>T)

Individual ID 00172576
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1712940C>T
DNA change (hg38) -
Published as Y195Y
ISCN -
DB-ID AKAP17A_000007
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00169 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-05-08 12:40:34 +02:00 (CEST)
Date last edited 2018-07-27 13:04:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKAP17A NM_005088.2 ?/. - c.585C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173459 DNA SEQ - - AKAP17A 1 Lucy Raymond