SCN1A-AS1

SCN1A and SCN9A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:165957188-166390771

Links

ENSG00000236107

∙ NCBI:101929680 ∙ ∙ HGNC:54069 ∙ ∙ ∙ 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 SCN1A-AS1 gene.

Neuropathy, hereditary sensory and autonomic, type 2A;Generalized epilepsy with febrile seizures plus, type 7 (43 variants)
Generalized epilepsy with febrile seizures plus, type 7;Neuropathy, hereditary sensory and autonomic, type 2A (26 variants)
not provided (15 variants)
Channelopathy-associated congenital insensitivity to pain, autosomal recessive (10 variants)
Primary erythromelalgia (4 variants)
Early infantile epileptic encephalopathy with suppression bursts (3 variants)
Inborn genetic diseases (3 variants)
Paroxysmal extreme pain disorder (3 variants)
not specified (1 variants)
Abnormality of pain sensation;Acute episodes of neuropathic symptoms (1 variants)
Generalized epilepsy with febrile seizures plus, type 7 (1 variants)
Pain insensitivity (1 variants)
SCN9A-related peripheral neuropathies associated with increased pain (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCN1A-AS1 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	1 clinvar		4 clinvar			5
Total	1	0	4	0	0

Highest pathogenic variant AF is 0.0000197304

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP