Variant #0000001155 (NC_000001.11:g.99921583_99921586delTGTC, NM_000642.2:c.4531_4534delTGTC (AGL))

Individual ID 00000232
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.99921583_99921586delTGTC
Published as -
Reference Ili Syazwana Abdullah et al. (2019)
DB-ID AGL_000008 See all 2 reported entries
dbSNP ID -
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 16:54:04 +08:00 (CST)
Date last edited 2020-12-14 17:33:44 +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 +/. 35 c.4531_4534delTGTC - r.(?) p.(Cys1511Leufs*35) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000247 DNA PCRdig;TaqMan AGL 2 Nuur Athirah Binti Mohd Daud