Variant #0000003071 (NC_000017.11:g.19808G>A, NM_000342.4:c.2102G>A (SLC4A1))

Individual ID 00000793
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.19808G>A
Published as -
Reference Keng E Choo et al.(2006)
DB-ID SLC4A1_000005
dbSNP ID rs121912748
Frequency -
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 2021-07-19 10:12:52 +08:00 (CST)
Date last edited 2021-07-25 13:21:39 +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     
SLC4A1 NM_000342.4 +/. 17 c.2102G>A G701D r.(?) p.(Gly701Asp) Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000887 DNA SEQ;SSCA SLC4A1 4 Nur Aisyah Athirah