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)     

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.301G>T r.(?) p.(Glu101Ter) Unknown - VUS g.1093689C>A g.1093574C>A SLC12A7(NM_006598.3):c.301G>T (p.E101*) - SLC12A7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.676-16G>T r.(=) p.(=) Unknown - benign g.1085604C>A g.1085489C>A - - SLC12A7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1222G>A r.(?) p.(Ala408Thr) Unknown - benign g.1081767C>T g.1081652C>T - - SLC12A7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1287T>C r.(?) p.(Pro429=) Unknown - benign g.1081702A>G g.1081587A>G - - SLC12A7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1749-10G>A r.(=) p.(=) Unknown - benign g.1076361C>T g.1076246C>T - - SLC12A7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1847+8C>T r.(=) p.(=) Unknown - benign g.1076245G>A g.1076130G>A - - SLC12A7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2321T>C r.(?) p.(Met774Thr) Unknown - benign g.1065514A>G g.1065399A>G - - SLC12A7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2378T>C r.(?) p.(Met793Thr) Unknown - likely benign g.1065457A>G g.1065342A>G - - SLC12A7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2436G>A r.(?) p.(Val812=) Unknown - benign g.1065399C>T g.1065284C>T - - SLC12A7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2700C>T r.(?) p.(Tyr900=) Unknown - benign g.1063998G>A g.1063883G>A - - SLC12A7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2848-18A>G r.(=) p.(=) Unknown - benign g.1057782T>C g.1057667T>C - - SLC12A7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2874C>T r.(?) p.(Thr958=) Unknown - benign g.1057738G>A g.1057623G>A - - SLC12A7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2997T>C r.(?) p.(Ser999=) Unknown - benign g.1057615A>G g.1057500A>G - - SLC12A7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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