Variant #0000308347 (NC_000007.13:g.107302228G>T, NM_000441.1:c.142G>T (SLC26A4))

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.107302228G>T
DNA change (hg38) g.107661783G>T
Published as SLC26A4(NM_000441.1):c.142G>T (p.E48*)
ISCN -
DB-ID SLC26A4_000203
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-06-23 13:20:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A4 NM_000441.1 +/. - c.142G>T r.(?) p.(Glu48Ter)
SLC26A4-AS1 NR_028137.1 +/. - n.16C>A r.(?) -


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