Variant #0000394112 (NC_000023.10:g.127185657C>T, ACTRT1(NM_138289.3):c.529G>A)

Individual ID 00172989
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.127185657C>T
DNA change (hg38) g.128051678C>T
Published as -
ISCN -
DB-ID ACTRT1_000008
Variant remarks recurrent, found 7 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 7/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01491 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTRT1 NM_138289.3 ?/. - c.529G>A r.(?) p.(Ala177Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173872 DNA SEQ - - TLR8 1 Lucy Raymond