Variant #0000002565 (NC_000007.14:g.107694622C>T, SLC26A4(NM_000441.1):c.1343C>T)

Individual ID 00000573
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
Options




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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000625 DNA PCR;PAGE;SEQ SLC26A4 1 Nur Aisyah Athirah