Screening #0000081812

Individual ID 00081682
Template DNA
Technique PCR
Tissue Blood
Remarks -
Variants found? 2
Owner name Cynthia Silveira


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 106 52 2019-07-05 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
5 Unknown +?/. g.149357559G>C - 371G>C (Gly115Ala) - SLC26A2_000034 - - - - Unknown - - - 0 - Cynthia Silveira SLC26A2 - - - - - 2 NM_000112.3:c.344G>C - likely pathogenic r.(?) p.(Gly115Ala) - - - - - - - - - - - - - - - - - - -
5 Unknown +?/. g.149361061del - 1905delG (Thr627Leufs*23) - SLC26A2_000033 variant description correct? - - - Unknown - - - 0 - Cynthia Silveira SLC26A2 - - - - - 3 NM_000112.3:c.1905del - likely pathogenic r.(?) p.(Met635Ilefs*15) - - - - - - - - - - - - - - - - - - -
Legend