Variant #0000002571 (NC_000007.14:g.107694622C>T, NM_000441.1:c.1343C>T (SLC26A4))

Individual ID 00000574
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.107694622C>T
Published as -
Reference Yock-Ping Chow et al.(2017)
DB-ID SLC26A4_000001 See all 2 reported entries
dbSNP ID rs747076316
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 2021-04-07 11:47:13 +08:00 (CST)
Date last edited 2021-08-01 14:07:36 +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     
SLC26A4 NM_000441.1 +/. - c.1343C>T - r.(?) p.(Ser448Leu) Likely pathogenic



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000631 DNA PCR;PFGE;SEQ SLC26A4 1 Nur Aisyah Athirah