Full data view for gene SLC26A6

Information The variants shown are described using the NM_022911.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.539G>A r.(?) p.(Arg180Gln) Unknown - likely benign g.48669724C>T - SLC26A6(NM_022911.3):c.539G>A (p.(Arg180Gln)) - CELSR3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1519C>T r.(?) p.(Arg507Trp) Paternal (confirmed) - likely pathogenic g.48667315G>A g.48629882G>A - - SLC26A6_000001 - PubMed: Corniere 2022 - - Germline - - - - - DNA SEQ - WES NPHL patient PubMed: Corniere 2022 2-generation family, affected father/daughter F no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.1814A>G r.(?) p.(Lys605Arg) Unknown - VUS g.48665458T>C - SLC26A6(NM_022911.3):c.1814A>G (p.(Lys605Arg)) - SLC26A6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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