Genomic variant #0000400951

Individual ID 00173431
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119048786C>G
DNA change (hg38) -
Published as A129G
ISCN -
DB-ID AKAP14_000003
Variant remarks recurrent, found 3 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00833 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AKAP14 NM_178813.5 ?/. 5 c.386C>G - r.(?) p.(Ala129Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174314 DNA SEQ - - RGAG1 1 Lucy Raymond