SCN1A-AS1

Gene

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

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:4

Top phenotype

Neuropathy, hereditary sensory and autonomic, type 2A;Generalized epilepsy with febrile seizures plus, type 7

Max pathogenic AF

—

Genomic locus

chr2:165,957,188-166,390,771

External References & Databases

Ensembl (ENSG00000236107)

NCBI Gene (101929680)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SCN1A-AS1 variants in ClinVar

13 Conditions Cataloged

Neuropathy, hereditary sensory and autonomic, type 2A;Generalized epilepsy with febrile seizures plus, type 7Total: 43

Generalized epilepsy with febrile seizures plus, type 7;Neuropathy, hereditary sensory and autonomic, type 2ATotal: 26

not providedTotal: 15

Channelopathy-associated congenital insensitivity to pain, autosomal recessiveTotal: 10

Primary erythromelalgiaTotal: 4

Early infantile epileptic encephalopathy with suppression burstsTotal: 3

Inborn genetic diseasesTotal: 3

Paroxysmal extreme pain disorderTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	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	5

Highest pathogenic variant AF is 0.0000197304

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP