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NM_001032221.6(STXBP1):c.1111-2A>G AND Developmental and epileptic encephalopathy, 4

Germline classification:
Pathogenic (1 submission)
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:
RCV000721132.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1111-2A>G]

NM_001032221.6(STXBP1):c.1111-2A>G

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.1111-2A>G
HGVS:
  • NC_000009.12:g.127675802A>G
  • NG_016623.1:g.68596A>G
  • NG_016623.2:g.68892A>G
  • NM_001032221.6:c.1111-2A>GMANE SELECT
  • NM_001374306.2:c.1102-2A>G
  • NM_001374307.2:c.1069-2A>G
  • NM_001374308.2:c.1069-2A>G
  • NM_001374309.2:c.1069-2A>G
  • NM_001374310.2:c.1069-2A>G
  • NM_001374311.2:c.1069-2A>G
  • NM_001374312.2:c.1069-2A>G
  • NM_001374313.2:c.1111-2A>G
  • NM_001374314.1:c.1111-2A>G
  • NM_001374315.2:c.1003-2A>G
  • NM_003165.6:c.1111-2A>G
  • NC_000009.11:g.130438081A>G
  • NM_003165.3:c.1111-2A>G
Links:
dbSNP: rs1554778417
NCBI 1000 Genomes Browser:
rs1554778417
Molecular consequence:
  • NM_001032221.6:c.1111-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374306.2:c.1102-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374307.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374308.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374309.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374310.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374311.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374312.2:c.1069-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374313.2:c.1111-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374314.1:c.1111-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374315.2:c.1003-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003165.6:c.1111-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 4 (DEE4)
Synonyms:
Early infantile epileptic encephalopathy 4; STXBP1-Related Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0012812; MedGen: C2677326; Orphanet: 1934; Orphanet: 33069; OMIM: 612164

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000844978Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University, SCV000844978.1

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

Last Updated: Sep 29, 2024