Variant #0000701853 (NC_000014.8:g.31539047A>G, NC_000014.8(NM_001128126.2):c.139-2A>G (AP4S1))

Individual ID 00318007
Chromosome 14
Allele Both (homozygous)
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.31539047A>G
DNA change (hg38) g.31069841A>G
Published as -
ISCN -
DB-ID AP4S1_000020
Variant remarks -
Reference PubMed: Riazuddin 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-05 17:52:36 +01:00 (CET)
Date last edited 2020-11-05 19:19:01 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP4S1 NM_001128126.2 ?/. - c.139-2A>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319189 DNA SEQ;SEQ-NG - WES AP4S1 1 Johan den Dunnen


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