Full data view for gene SLC12A3

Information The variants shown are described using the NM_000339.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.2576T>C r.(?) p.(Leu859Pro) Unknown - pathogenic g.56928470T>C g.56894558T>C SLC12A3(NM_000339.3):c.2576T>C (p.L859P) - SLC12A3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown - pathogenic g.56928470T>C g.56894558T>C SLC12A3(NM_000339.3):c.2576T>C (p.L859P) - SLC12A3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA, SEQ-PB - - GTLMNS Pat100 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected sister, unaffected parents F - Germany - - - - - 2 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat42 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected brother, unaffected parents F no France - - - - - 2 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat25 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - 1 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat96 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected brother, unaffected parents F no France - - - - - 2 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ-NG, SEQ-PB - - GTLMNS Pat87 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history M no France - - - - - 1 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SEQ-NG - - GTLMNS Pat89 PubMed: Viering 2023, Journal: Viering 2023 - M - France - - - - - 1 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA - - GTLMNS Pat101 PubMed: Viering 2023, Journal: Viering 2023 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C p.Leu859Pro - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA - - GTLMNS Pat115 PubMed: Viering 2023, Journal: Viering 2023 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2576T>C r.(?) p.(Leu859Pro) Unknown ACMG pathogenic (recessive) g.56928470T>C g.56894558T>C - - SLC12A3_000101 ACMG PS3, PS4, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat31 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - 1 Johan den Dunnen
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