Genomic variant #0000132544

Individual ID 00081682
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.149361061del
DNA change (hg38) g.149981498del
Published as 1905delG (Thr627Leufs*23)
ISCN -
DB-ID SLC26A2_000033
Variant remarks variant description correct?
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Cynthia Silveira
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC26A2 NM_000112.3 +?/. 3 c.1905del r.(?) p.(Met635Ilefs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081812 DNA PCR Blood - SLC26A2 2 Cynthia Silveira