Variant #0000002405 (NC_000002.12:g.214997750A>T, NM_173076.2:c.3239T>A (ABCA12))

Individual ID 00000517
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.214997750A>T
Published as -
Reference Sanae Numata et al.(2015)
DB-ID ABCA12_000001
dbSNP ID rs1169776576
Frequency 1/17
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-16 08:39:43 +08:00 (CST)
Date last edited 2021-09-08 12:52:57 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ABCA12 NM_015657.3 +/. - c.2285T>A - r.(?) p.(Phe762Tyr) -
ABCA12 NM_173076.2 ?/. - c.3239T>A - r.(?) p.(Phe1080Tyr) -
ABCA12 NR_103740.1 ?/. - n.3539T>A - r.(?) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000565 DNA PCR ABCA12 1 Nur Aisyah Athirah