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NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 7, 2006
Accession:
VCV000006357.1
Variation ID:
6357
Description:
single nucleotide variant
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NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)

Allele ID
21396
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166228971 (GRCh38) GRCh38 UCSC
2: 167085481 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_369t1:c.3893T>A LRG_369p1:p.Val1298Asp
NC_000002.11:g.167085481A>T
NC_000002.12:g.166228971A>T
... more HGVS
Protein change
V1298D, V1309D
Other names
-
Canonical SPDI
NC_000002.12:166228970:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA118143
OMIM: 603415.0009
dbSNP: rs121908911
VarSome
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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 Dec 7, 2006 RCV000006729.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A-AS1 - - - GRCh38 - 1176
SCN9A - - GRCh38
GRCh37
236 1439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 07, 2006)
no assertion criteria provided
Method: literature only
PAROXYSMAL EXTREME PAIN DISORDER
Allele origin: germline
OMIM
Accession: SCV000026920.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Fertleman CR Neuron 2006 PMID: 17145499

Text-mined citations for rs121908911...

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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 Oct 08, 2021