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NM_000441.2(SLC26A4):c.2047T>G (p.Phe683Val)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 8, 2018)
Last evaluated:
Sep 16, 2018
Accession:
VCV000591260.1
Variation ID:
591260
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.2047T>G (p.Phe683Val)

Allele ID
582253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107704343 (GRCh38) GRCh38 UCSC
7: 107344788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107344788T>G
NC_000007.14:g.107704343T>G
NM_000441.2:c.2047T>G MANE Select NP_000432.1:p.Phe683Val missense
NG_008489.1:g.48709T>G
Protein change
F683V
Other names
-
Canonical SPDI
NC_000007.14:107704342:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs959216005
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Sep 16, 2018 RCV000722438.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
748 824

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 16, 2018)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000853569.1
Submitted: (Oct 08, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs959216005...

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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 Jan 04, 2020