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NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000055969.1
Variation ID:
55969
Description:
single nucleotide variant
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NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter)

Allele ID
70608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107779715 (GRCh38) GRCh38 UCSC
7: 107420160 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.107779715G>A
NC_000007.13:g.107420160G>A
NM_000111.2:c.1360C>T NP_000102.1:p.Gln454Ter nonsense
... more HGVS
Protein change
Q454*
Other names
-
Canonical SPDI
NC_000007.14:107779714:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144048
dbSNP: rs386833451
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000049378.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A3 - - GRCh38
GRCh37
172 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Congenital secretory diarrhea, chloride type
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000081811.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Update on SLC26A3 mutations in congenital chloride diarrhea. Wedenoja S Human mutation 2011 PMID: 21394828

Text-mined citations for rs386833451...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020