Variant #0000002099 (NC_000006.12:g.32182519C>A, AGER(NM_001136.4):c.822+49G>T)

Individual ID 00000449
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32182519C>A
Published as 1704G/T
Reference Z X Ng et al. (2012), dbSNP
DB-ID AGER_000004 See all 4 reported entries
dbSNP ID rs184003
Frequency 37/98
Variant remarks -
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.822+49G>T - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000487 DNA PCRdig AGER 6 Nuur Athirah Binti Mohd Daud