Variant #0000001616 (NC_000006.12:g.32184665A>G, NM_001136.4:c.-443T>C (AGER))

Individual ID 00000350
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32184665A>G
Published as -429T/C
Reference Zhi Xiang Ng et al. (2012)
DB-ID AGER_000003 See all 6 reported entries
dbSNP ID rs796452917
Frequency 4/171
Variant remarks DNR (diabetic non-retinopathy)
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 2021-01-13 15:45:35 +08:00 (CST)
Date last edited 2021-09-08 15:01:19 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
AGER NM_001136.4 +/. - c.-443T>C - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000364 DNA PCR;SEQ AGER 8 Nuur Athirah Binti Mohd Daud