Variant #0000001614 (NC_000006.12:g.32180113C>T, NM_001136.4:c.*1030G>A (AGER))

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 52/171
Variant remarks DR (diabetic 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 15:17:19 +08:00 (CST)
Date last edited 2021-09-08 14:46:45 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
AGER NM_001136.4 +/. - c.*1030G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

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