NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000723704.1

Allele description [Variation Report for NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)]

NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
HGVS:
  • NC_000007.14:g.107661669C>A
  • NG_008489.1:g.6035C>A
  • NM_000441.2:c.28C>AMANE SELECT
  • NM_000441.2:c.28C>AMANE SELECT
  • NP_000432.1:p.Pro10Thr
  • NP_000432.1:p.Pro10Thr
  • NC_000007.13:g.107302114C>A
  • NC_000007.13:g.107302114C>A
  • NM_000441.1:c.28C>A
  • NR_028137.1:n.130G>T
  • c.28C>A
Protein change:
P10T
Links:
dbSNP: rs200102493
NCBI 1000 Genomes Browser:
rs200102493
Molecular consequence:
  • NM_000441.2:c.28C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028137.1:n.130G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700620EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700620.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 24, 2021

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