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NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del) AND Intellectual disability

Germline classification:
Uncertain significance (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:
RCV001328485.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)]

NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
HGVS:
  • NC_000009.12:g.127676710TCA[1]
  • NG_016623.1:g.69504TCA[1]
  • NM_001032221.6:c.1316TCA[1]MANE SELECT
  • NM_001374306.2:c.1307TCA[1]
  • NM_001374307.2:c.1274TCA[1]
  • NM_001374308.2:c.1274TCA[1]
  • NM_001374309.2:c.1274TCA[1]
  • NM_001374310.2:c.1274TCA[1]
  • NM_001374311.2:c.1274TCA[1]
  • NM_001374312.2:c.1274TCA[1]
  • NM_001374313.2:c.1316TCA[1]
  • NM_001374314.1:c.1316TCA[1]
  • NM_001374315.2:c.1208TCA[1]
  • NM_003165.6:c.1316TCA[1]
  • NP_001027392.1:p.Ile440del
  • NP_001361235.1:p.Ile437del
  • NP_001361236.1:p.Ile426del
  • NP_001361237.1:p.Ile426del
  • NP_001361238.1:p.Ile426del
  • NP_001361239.1:p.Ile426del
  • NP_001361240.1:p.Ile426del
  • NP_001361241.1:p.Ile426del
  • NP_001361242.1:p.Ile440del
  • NP_001361243.1:p.Ile440del
  • NP_001361244.1:p.Ile404del
  • NP_003156.1:p.Ile440del
  • NC_000009.11:g.130438989TCA[1]
  • NC_000009.12:g.127676713_127676715del
Protein change:
I404del
Links:
dbSNP: rs1841769844
NCBI 1000 Genomes Browser:
rs1841769844
Molecular consequence:
  • NM_001032221.6:c.1316TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374306.2:c.1307TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374307.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374308.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374309.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374310.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374311.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374312.2:c.1274TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374313.2:c.1316TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374314.1:c.1316TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001374315.2:c.1208TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003165.6:c.1316TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001519640Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV001519640.1

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

Last Updated: Sep 30, 2023