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NM_057176.3(BSND):c.-117T>C AND not provided

Clinical significance:Benign (Last evaluated: Jun 22, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001653462.2

Allele description [Variation Report for NM_057176.3(BSND):c.-117T>C]

NM_057176.3(BSND):c.-117T>C

Gene:
BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_057176.3(BSND):c.-117T>C
HGVS:
  • NC_000001.11:g.54999070T>C
  • NG_008965.1:g.5127T>C
  • NG_008965.2:g.5138T>C
  • NM_057176.3:c.-117T>CMANE SELECT
  • LRG_1282t1:c.-117T>C
  • LRG_1282:g.5138T>C
  • NC_000001.10:g.55464743T>C
  • NM_057176.2:c.-117T>C
Links:
dbSNP: rs2500340
NCBI 1000 Genomes Browser:
rs2500340
Molecular consequence:
  • NM_057176.3:c.-117T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001862852GeneDxcriteria provided, single submitter
Benign
(Jun 22, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001862852.1

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

Last Updated: Apr 23, 2022

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