SLC8A1-AS1

SLC8A1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:39786453-40255209

Links

ENSG00000227028 ∙ NCBI:100128590 ∙ ∙ HGNC:44102 ∙ ∙ ∙ 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 SLC8A1-AS1 gene.

• Inborn genetic diseases (11 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC8A1-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			11	5	3	19
Total	0	0	11	5	3

Variants in SLC8A1-AS1

This is a list of pathogenic ClinVar variants found in the SLC8A1-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-40115284-A-G		not specified	Uncertain significance (Oct 26, 2022)
2-40115329-C-A		not specified	Uncertain significance (Sep 07, 2022)
2-40115345-T-C		not specified	Uncertain significance (Feb 02, 2024)
2-40115354-G-A		not specified	Uncertain significance (Sep 17, 2021)
2-40115390-G-T			Benign (Jun 26, 2018)
2-40115405-C-T		not specified	Uncertain significance (Sep 20, 2023)
2-40115460-G-T			Benign (Dec 31, 2019)
2-40115467-G-A		not specified	Uncertain significance (May 27, 2022)
2-40115488-T-A		not specified	Uncertain significance (Feb 14, 2023)
2-40115550-C-T			Benign (Aug 08, 2018)
2-40115591-A-G		not specified	Uncertain significance (Apr 19, 2023)
2-40139474-G-C		not specified	Uncertain significance (Jan 10, 2023)
2-40139495-G-A			Likely benign (May 14, 2018)
2-40139572-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-40139617-C-A		not specified	Uncertain significance (Jan 17, 2024)
2-40139663-G-C		not specified	Uncertain significance (Aug 16, 2021)
2-40160778-G-A			Likely benign (Mar 29, 2018)
2-40160780-T-C		not specified	Uncertain significance (May 27, 2022)
2-40160859-A-T			Likely benign (Jul 01, 2022)
2-40164934-G-A		not specified	Uncertain significance (Oct 05, 2021)
2-40164940-C-T		not specified	Uncertain significance (Jun 16, 2024)
2-40164983-G-A			Likely benign (Jun 26, 2018)
2-40177826-C-T			Likely benign (Aug 01, 2022)
2-40178403-C-G		not specified	Uncertain significance (Aug 08, 2023)
2-40178486-T-C		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP