NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Dec 12, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000477826.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)]

NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)

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.799C>A (p.Leu267Ile)
Other names:
p.L267I:CTC>ATC
HGVS:
  • NC_000005.10:g.161890993C>A
  • NG_011548.1:g.48803C>A
  • NM_000806.5:c.799C>A
  • NM_001127643.2:c.799C>A
  • NM_001127644.2:c.799C>AMANE SELECT
  • NM_001127645.2:c.799C>A
  • NM_001127648.2:c.799C>A
  • NP_000797.2:p.Leu267Ile
  • NP_001121115.1:p.Leu267Ile
  • NP_001121116.1:p.Leu267Ile
  • NP_001121117.1:p.Leu267Ile
  • NP_001121120.1:p.Leu267Ile
  • NC_000005.9:g.161317999C>A
Protein change:
L267I
Links:
dbSNP: rs796052492
NCBI 1000 Genomes Browser:
rs796052492
Molecular consequence:
  • NM_000806.5:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, juvenile myoclonic 5 (EIG13)
Synonyms:
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
Identifiers:
MONDO: MONDO:0012627; MedGen: C4013473; Orphanet: 307; Orphanet: 64280; OMIM: 611136
Name:
Epileptic encephalopathy, early infantile, 19 (DEE19)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
Identifiers:
MONDO: MONDO:0014328; MedGen: C3810400; Orphanet: 33069; OMIM: 615744

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536726Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedLikely pathogenic
(Dec 12, 2016)
de novoresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 7, 2021

Support Center