SYNGAP1-AS1

SYNGAP1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000274259 ∙ ∙ ∙ HGNC:53831 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SYNGAP1-AS1 gene.

• Intellectual disability, autosomal dominant 5 (798 variants)
• not provided (294 variants)
• Inborn genetic diseases (131 variants)
• not specified (42 variants)
• Complex neurodevelopmental disorder (13 variants)
• Intellectual disability (10 variants)
• SYNGAP1-related condition (10 variants)
• See cases (6 variants)
• SYNGAP1-related developmental and epileptic encephalopathy (4 variants)
• Global developmental delay (2 variants)
• Seizure (2 variants)
• Microcephaly;Epileptic encephalopathy (1 variants)
• 13 conditions (1 variants)
• Developmental disorder (1 variants)
• SYNGAP1-related encephalopathy (1 variants)
• Neurodevelopmental disorder (1 variants)
• Neurodevelopmental delay (1 variants)
• Absent speech;Cerebellar ataxia;Global developmental delay (1 variants)
• SYNGAP1-Related Disorder (1 variants)
• Intellectual disability, autosomal dominant 5;Infantile epileptic dyskinetic encephalopathy (1 variants)
• Autosomal dominant epilepsy (1 variants)
• Marfanoid habitus and intellectual disability (1 variants)
• Motor delay;Atypical behavior;Global developmental delay;Delayed speech and language development (1 variants)
• Generalized hypotonia;Stereotypic movement disorder;Delayed speech and language development;Preauricular skin tag;Global developmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNGAP1-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1	1		2
splice region						0
non coding	175	84	338	373	69	1039
Total	175	84	339	374	69

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP