Variant #0000002098 (NC_000006.12:g.32183666C>T, NM_001136.4:c.244G>A (AGER))

Individual ID 00000449
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.32183666C>T
Published as Gly82Ser
Reference Z X Ng et al. (2012), dbSNP
DB-ID AGER_000001 See all 4 reported entries
dbSNP ID rs2070600
Frequency 81/98
Variant remarks -
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 2021-02-22 16:26:13 +08:00 (CST)
Date last edited 2021-09-05 14:52:53 +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     
0000000487 DNA PCRdig AGER 6 Nuur Athirah Binti Mohd Daud