SLC6A1-AS1

SLC6A1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000232287 ∙ ∙ ∙ HGNC:40546 ∙ ∙ ∙ 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 SLC6A1-AS1 gene.

• Myoclonic-astatic epilepsy (150 variants)
• not provided (74 variants)
• Inborn genetic diseases (25 variants)
• SLC6A1-related condition (5 variants)
• Intellectual disability (1 variants)
• Myoclonic-atonic epilepsy (1 variants)
• Autosomal dominant epilepsy (1 variants)
• Global developmental delay;Seizure (1 variants)
• Neurodevelopmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC6A1-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)						0
splice region						0
non coding	20	26	73	68	22	209
Total	20	26	73	68	22

Highest pathogenic variant AF is 0.0000131

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP