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NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) AND Hyperekplexia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000031893.5

Allele description [Variation Report for NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)]

NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)

Gene:
GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)
HGVS:
  • NC_000005.10:g.151829059del
  • NG_011764.1:g.100778del
  • NM_000171.4:c.921delMANE SELECT
  • NM_001146040.2:c.921del
  • NM_001292000.2:c.672del
  • NP_000162.2:p.Ser306_Tyr307insTer
  • NP_001139512.1:p.Ser306_Tyr307insTer
  • NP_001278929.1:p.Ser223_Tyr224insTer
  • NC_000005.9:g.151208620del
  • NM_000171.3:c.921delT
Nucleotide change:
1217delT
Links:
dbSNP: rs281864921
NCBI 1000 Genomes Browser:
rs281864921
Molecular consequence:
  • NM_000171.4:c.921del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001146040.2:c.921del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001292000.2:c.672del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hyperekplexia 1 (STHE)
Synonyms:
Startle disease, familial; Startle reaction, exaggerated; Stiff-baby syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007868; MedGen: C4551954; Orphanet: 3197; OMIM: 149400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054515GeneReviews
no assertion criteria provided
pathologic
(Oct 4, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000054515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024