NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser) AND Epileptic encephalopathy, early infantile, 19

Clinical significance:Uncertain significance (Last evaluated: Feb 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089752.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser)]

NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser)

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.406G>T (p.Ala136Ser)
HGVS:
  • NC_000005.10:g.161873267G>T
  • NG_011548.1:g.31077G>T
  • NM_000806.5:c.406G>T
  • NM_001127643.2:c.406G>T
  • NM_001127644.2:c.406G>TMANE SELECT
  • NM_001127645.2:c.406G>T
  • NM_001127648.2:c.406G>T
  • NP_000797.2:p.Ala136Ser
  • NP_001121115.1:p.Ala136Ser
  • NP_001121116.1:p.Ala136Ser
  • NP_001121117.1:p.Ala136Ser
  • NP_001121120.1:p.Ala136Ser
  • NC_000005.9:g.161300273G>T
  • p.Ala136Ser
Protein change:
A136S
Molecular consequence:
  • NM_000806.5:c.406G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.406G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.406G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.406G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.406G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epileptic encephalopathy, early infantile, 19 (DEE19)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
Identifiers:
MONDO: MONDO:0014328; MedGen: C3810400; Orphanet: 33069; OMIM: 615744

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001245240Laboratory of Inherited Metabolic Diseases, Research centre for medical geneticscriteria provided, single submitter
Uncertain significance
(Feb 14, 2020)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001245240.1

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

Last Updated: Mar 7, 2021

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