SCFD2
Homo sapiens
Gene Name: sec1 family domain containing 2
Aliases: STXBP1L1
Chromosome No: 4
Chromosome Band: 4q12
Genetic Category: Rare Single Gene variant
Aliases: STXBP1L1
Chromosome No: 4
Chromosome Band: 4q12
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: 0
ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Rare variants in the SCFD2 gene have been identified with autism (Pinto et al., 2010).
Molecular Function
Probable participation in vescicle docking involved in exocytosis
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
ASD
DD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN222R003
missense_variant
c.1478A>T
p.Glu493Val
De novo
Unknown
GEN222R004
intron_variant
c.1312-52099G>A
De novo
Unknown
GEN222R006a
missense_variant
c.1148C>T
p.Pro383Leu
Familial
Both parents
Simplex
Common
No Common Variants Available
