Variant #0000001145 (NC_000001.11:g.99884704G>A, NC_000001.11(NM_000642.2):c.2681+1G>A (AGL))

Individual ID 00000229
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.99884704G>A
Published as -
Reference Ili Syazwana Abdullah et al. (2019)dbSNP
DB-ID AGL_000001 See all 2 reported entries
dbSNP ID rs201201443
Frequency 6/14
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-07 16:12:49 +08:00 (CST)
Date last edited 2021-09-08 11:21:25 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
AGL NM_000642.2 +/. 21 c.2681+1G>A - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000244 DNA PCRdig;TaqMan AGL 5 Nuur Athirah Binti Mohd Daud