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NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 27, 2017)
Last evaluated:
Sep 8, 2017
Accession:
VCV000265999.1
Variation ID:
265999
Description:
1bp deletion
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NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs)

Allele ID
260799
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48234952 (GRCh38) GRCh38 UCSC
15: 48527149 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48234952del
NC_000015.9:g.48527149del
NM_001184832.2:c.1163del NP_001171761.1:p.Phe388fs frameshift
... more HGVS
Protein change
F388fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA7546982
dbSNP: rs779588655
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000256407.1
Likely pathogenic 1 no assertion criteria provided Sep 8, 2017 RCV000662326.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC12A1 - - GRCh38
GRCh37
120 135

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Bartter syndrome, type 1, antenatal
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000323158.1
Submitted: (Oct 10, 2016)
Evidence details
Likely pathogenic
(Sep 08, 2017)
no assertion criteria provided
Method: literature only
Nephrolithiasis
Nephrocalcinosis
Allele origin: germline
Yale Center for Mendelian Genomics,Yale University
Accession: SCV000784658.1
Submitted: (Nov 27, 2017)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Daga A Kidney international 2018 PMID: 28893421

Record last updated Oct 27, 2019