Variant #0000001620 (NC_000006.12:g.32184610A>T, AGER(NM_001136.4):c.-388T>A)

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.32184610A>T
Published as -374T/A
Reference Zhi Xiang Ng et al. (2012)
DB-ID AGER_000002 See all 6 reported entries
dbSNP ID rs886057791
Frequency 2/171
Variant remarks DNR (diabetic non-retinopathy)
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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
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.-388T>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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