NM_001365536.1(SCN9A):c.3925-13T>C AND Inherited Erythromelalgia

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000287096.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.3925-13T>C]

NM_001365536.1(SCN9A):c.3925-13T>C

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.3925-13T>C
HGVS:
  • NC_000002.12:g.166228985A>G
  • NG_012798.1:g.152003T>C
  • NM_001365536.1:c.3925-13T>CMANE SELECT
  • NM_002977.3:c.3892-13T>C
  • LRG_369t1:c.3892-13T>C
  • LRG_369:g.152003T>C
  • NC_000002.11:g.167085495A>G
Links:
dbSNP: rs886055051
NCBI 1000 Genomes Browser:
rs886055051
Molecular consequence:
  • NM_001365536.1:c.3925-13T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inherited Erythromelalgia
Identifiers:
MedGen: CN239438

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000418389Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000418389.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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