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NM_000815.5(GABRD):c.69-4C>T AND Epilepsy, idiopathic generalized, susceptibility to, 10

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002227645.1

Allele description [Variation Report for NM_000815.5(GABRD):c.69-4C>T]

NM_000815.5(GABRD):c.69-4C>T

Gene:
GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_000815.5(GABRD):c.69-4C>T
HGVS:
  • NC_000001.11:g.2024938C>T
  • NG_008168.1:g.10610C>T
  • NM_000815.5:c.69-4C>TMANE SELECT
  • NC_000001.10:g.1956377C>T
Links:
dbSNP: rs1052163062
NCBI 1000 Genomes Browser:
rs1052163062
Molecular consequence:
  • NM_000815.5:c.69-4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Epilepsy, idiopathic generalized, susceptibility to, 10
Synonyms:
Epilepsy, idiopathic generalized 10
Identifiers:
MONDO: MONDO:0013103; MedGen: C2751603; OMIM: 613060

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002506701New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 4, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506701.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023