Full data view for gene SLC12A7

Information The variants shown are described using the NM_006598.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.301G>T VUS r.(?) p.(Glu101*) Unknown g.1093689C>A - SLC12A7(NM_006598.2):c.301G>T (p.E101*) - SLC12A7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.676-16G>T benign r.(=) p.(=) Unknown g.1085604C>A - SLC12A7(NM_006598.2):c.676-16G>T (p.?) - SLC12A7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1222G>A benign r.(?) p.(Ala408Thr) Unknown g.1081767C>T - SLC12A7(NM_006598.2):c.1222G>A (p.Ala408Thr) - SLC12A7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1287T>C benign r.(?) p.(=) Unknown g.1081702A>G - SLC12A7(NM_006598.2):c.1287T>C (p.= (p.Pro429Pro)) - SLC12A7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1749-10G>A benign r.(=) p.(=) Unknown g.1076361C>T - SLC12A7(NM_006598.2):c.1749-10G>A (p.?) - SLC12A7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1847+8C>T benign r.(=) p.(=) Unknown g.1076245G>A - SLC12A7(NM_006598.2):c.1847+8C>T (p.?) - SLC12A7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2321T>C benign r.(?) p.(Met774Thr) Unknown g.1065514A>G - SLC12A7(NM_006598.2):c.2321T>C (p.Met774Thr) - SLC12A7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2378T>C likely benign r.(?) p.(Met793Thr) Unknown g.1065457A>G - SLC12A7(NM_006598.2):c.2378T>C (p.Met793Thr) - SLC12A7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2436G>A benign r.(?) p.(=) Unknown g.1065399C>T - SLC12A7(NM_006598.2):c.2436G>A (p.= (p.Val812Val)) - SLC12A7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2700C>T benign r.(?) p.(=) Unknown g.1063998G>A - SLC12A7(NM_006598.2):c.2700C>T (p.= (p.Tyr900Tyr)) - SLC12A7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2848-18A>G benign r.(=) p.(=) Unknown g.1057782T>C - SLC12A7(NM_006598.2):c.2848-18A>G (p.?) - SLC12A7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2874C>T benign r.(?) p.(=) Unknown g.1057738G>A - SLC12A7(NM_006598.2):c.2874C>T (p.=) - SLC12A7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2997T>C benign r.(?) p.(=) Unknown g.1057615A>G - SLC12A7(NM_006598.2):c.2997T>C (p.= (p.Ser999Ser)) - SLC12A7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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