Variant #0000618973 (NC_000023.10:g.127185877_127185878del, ACTRT1(NM_138289.3):c.308_309del)

Chromosome X
Allele Unknown
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.127185877_127185878del
DNA change (hg38) g.128051898_128051899del
Published as ACTRT1(NM_138289.3):c.308_309delAA (p.Q103Pfs*13)
ISCN -
DB-ID ACTRT1_000013
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTRT1 NM_138289.3 ?/. - c.308_309del r.(?) p.(Gln103ProfsTer13)