NM_000441.2(SLC26A4):c.-66C>G AND not specified

Clinical significance:Benign (Last evaluated: Aug 18, 2009)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036416.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.-66C>G]

NM_000441.2(SLC26A4):c.-66C>G

Genes:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.-66C>G
HGVS:
  • NC_000007.14:g.107660793C>G
  • NG_008489.1:g.5159C>G
  • NM_000441.2:c.-66C>GMANE SELECT
  • NC_000007.13:g.107301238C>G
  • NM_000441.1:c.-66C>G
  • c.-66C>G
Links:
dbSNP: rs17154282
NCBI 1000 Genomes Browser:
rs17154282
Observations:
113

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060071Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Aug 18, 2009)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided114113not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060071.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided114not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided114not provided113not provided

Last Updated: Sep 23, 2021

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