NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Mar 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624127.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe)]

NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe)

Gene:
GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe)
HGVS:
  • NC_000005.10:g.161873200A>T
  • NG_011548.1:g.31010A>T
  • NM_000806.5:c.339A>T
  • NM_001127643.2:c.339A>T
  • NM_001127644.2:c.339A>TMANE SELECT
  • NM_001127645.2:c.339A>T
  • NM_001127648.2:c.339A>T
  • NP_000797.2:p.Leu113Phe
  • NP_001121115.1:p.Leu113Phe
  • NP_001121116.1:p.Leu113Phe
  • NP_001121117.1:p.Leu113Phe
  • NP_001121120.1:p.Leu113Phe
  • NC_000005.9:g.161300206A>T
Protein change:
L113F
Links:
dbSNP: rs1554085513
NCBI 1000 Genomes Browser:
rs1554085513
Molecular consequence:
  • NM_000806.5:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742275Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 14, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic/Puerto Rican/Salvadorangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Crystal structure of a human GABAA receptor.

Miller PS, Aricescu AR.

Nature. 2014 Aug 21;512(7514):270-5. doi: 10.1038/nature13293. Epub 2014 Jun 8.

PubMed [citation]
PMID:
24909990
PMCID:
PMC4167603

Details of each submission

From Ambry Genetics, SCV000742275.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic/Puerto Rican/Salvadoran1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 7, 2021

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