Variant #0000001150 (NC_000001.11:g.99876598G>T, NC_000001.11(NM_000642.2):c.1423+1G>T (AGL))

Individual ID 00000230
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.99876598G>T
Published as -
Reference Ili Syazwana Abdullah et al. (2019)dbSNP
DB-ID AGL_000006
dbSNP ID rs751952198
Frequency 1/2
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 16:33:03 +08:00 (CST)
Date last edited 2021-09-08 11:19:07 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
AGL NM_000642.2 +?/. 12i c.1423+1G>T - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000245 DNA PCRdig;TaqMan AGL 2 Nuur Athirah Binti Mohd Daud