Variant #0000001483 (NC_000006.12:g.32183666C>T, NM_001136.4:c.244G>A (AGER))

Individual ID 00000313
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32183666C>T
Published as G82S
Reference Foo Nian Wong et al. (2016), dbSNP
DB-ID AGER_000001 See all 4 reported entries
dbSNP ID rs2070600
Frequency 39/102
Variant remarks non-diabetic (ND-CKD)
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 2021-01-03 12:49:27 +08:00 (CST)
Date last edited 2021-09-01 10:51:16 +08:00 (CST)
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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.244G>A - r.(?) p.(Gly82Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000328 DNA PCRm;TaqMan AGER 10 Nuur Athirah Binti Mohd Daud