Variant #0000001613 (NC_000006.12:g.32180113C>T, AGER(NM_001136.4):c.*1030G>A)

Individual ID 00000349
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32180113C>T
Published as 2245G/A
Reference Zhi Xiang Ng et al. (2012)
DB-ID AGER_000006 See all 2 reported entries
dbSNP ID rs150400704
Frequency 28/171
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
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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.*1030G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000363 DNA PCR;SEQ AGER 2 Nuur Athirah Binti Mohd Daud