Genomic variant #0000001088

Individual ID 00000020
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149357444A>C
DNA change (hg38) g.149977881A>C
Published as -
ISCN -
DB-ID SLC26A2_000002 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC26A2 NM_000112.3 ?/. 2 c.229A>C - r.(?) p.(Asn77His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000020 DNA SEQ-NG - - ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1 14 LOVD-team, but with Curator vacancy