Genomic variant #0000016478

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.149359861_149359867del
DNA change (hg38) g.149980298_149980304del
Published as 731-737delGATGGGC: FS/stop
ISCN -
DB-ID SLC26A2_000013
Variant remarks Rare Hispanic-American DTD mutation
Reference PubMed: Rossi et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +/+ 3 c.705_711del r.(?) p.(Met236Serfs*16)