Full data view for gene SLC12A3

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

17 entries on 1 page. Showing entries 1 - 17.
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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.2981G>A r.(?) p.(Cys994Tyr) Unknown - pathogenic g.56947205G>A g.56913293G>A - - SLC12A3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Parent #1 - pathogenic g.56947205G>A g.56913293G>A - - SLC12A3_000112 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199849117 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Parent #1 ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SEQ, SEQ-PB - gene panel GTLMNS Pat59 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SEQ, SEQ-PB - - GTLMNS Pat21 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history M no France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA, SEQ-PB - - GTLMNS Pat105 PubMed: Viering 2023, Journal: Viering 2023 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA, SEQ-PB - - GTLMNS Pat118 PubMed: Viering 2023, Journal: Viering 2023 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA, SEQ-PB - - GTLMNS Pat121 PubMed: Viering 2023, Journal: Viering 2023 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SSCA, SEQ-PB - - GTLMNS Pat109 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected sister, unaffected parents M - Germany - - - - - 2 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat11 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected sister, unaffected parents F no France - - - - - 2 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat34 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history M no France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - gene panel GTLMNS Pat65 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history F no France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ-NG, SEQ-PB - - GTLMNS Pat94 PubMed: Viering 2023, Journal: Viering 2023 2-generation family, patient and affected brother, unaffected parents M no France - - - - - 2 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG, SEQ-PB - - GTLMNS Pat7 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history F no France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ - - GTLMNS Pat68 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history M no France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ-NG - - GTLMNS Pat76 PubMed: Viering 2023, Journal: Viering 2023 - M - France - - - - - 1 Johan den Dunnen
+/. - c.2981G>A r.(?) p.(Cys994Tyr) Unknown ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5; variant missed by SSCA 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.2981G>A r.(?) p.(Cys994Tyr) Parent #2 ACMG pathogenic (recessive) g.56947205G>A g.56913293G>A - - SLC12A3_000112 ACMG PS4, PS3, PM1, PM2, PM3, PP3, PP5 PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ, SEQ-PB - - GTLMNS Pat66 PubMed: Viering 2023, Journal: Viering 2023 patient, no family history F no France - - - - - 1 Johan den Dunnen
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