Genomic variant #0000308331

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149360962_149360965del
DNA change (hg38) -
Published as SLC26A2(NM_000112.3):c.1806_1809delAACT (p.T603Sfs*5)
ISCN -
DB-ID SLC26A2_000043
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/. - c.1806_1809del pathogenic r.(?) p.(Thr603Serfs*5)