Variant #0000003073 (NC_000017.11:g.15066_15092del, SLC4A1(NM_000342.4):c.1199_1225del)

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.15066_15092del
Published as -
Reference Keng E Choo et al.(2006)
DB-ID SLC4A1_000006
dbSNP ID rs769664228
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
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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 +/. 11 c.1199_1225del 1198_1224del r.(?) p.(Ala400_Ala408del) Pathogenic/Likely pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000887 DNA SEQ;SSCA SLC4A1 4 Nur Aisyah Athirah