Genomic variant #0000308327

Chromosome 5
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.149360176_149360178del
DNA change (hg38) g.149980613_149980615del
Published as SLC26A2(NM_000112.3):c.1020_1022delTGT (p.V341del)
ISCN -
DB-ID SLC26A2_000041
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/. - c.1020_1022del r.(?) p.(Val341del)