SLC9A3-AS1

SLC9A3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:473236-480884

Links

ENSG00000225138 ∙ NCBI:100288152 ∙ ∙ HGNC:40550 ∙ ∙ ∙ 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 SLC9A3-AS1 gene.

• not provided (214 variants)
• Inborn genetic diseases (9 variants)
• Congenital secretory sodium diarrhea 8 (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC9A3-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)			7	12		19
splice region						0
non coding	2		85	99	17	203
Total	2	0	92	111	17

Variants in SLC9A3-AS1

This is a list of pathogenic ClinVar variants found in the SLC9A3-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
5-473291-C-G			Benign (Aug 01, 2023)
5-473382-C-G			Uncertain significance (May 12, 2021)
5-473387-G-A			Likely benign (Aug 04, 2023)
5-473389-G-A			Likely benign (Jul 30, 2023)
5-473391-G-A			Likely benign (Sep 11, 2024)
5-473394-G-A			Likely benign (Jan 23, 2023)
5-473397-G-A			Likely benign (Nov 05, 2024)
5-473400-G-A			Likely benign (Dec 23, 2024)
5-474862-C-T			Likely benign (Jul 31, 2023)
5-474867-G-A			Likely benign (Aug 30, 2022)
5-474868-G-A			Likely benign (Jul 02, 2024)
5-474869-C-T			Likely benign (Jan 24, 2023)
5-474872-G-A			Likely benign (Sep 01, 2022)
5-474872-G-C			Likely benign (Jun 07, 2023)
5-474872-G-T			Likely benign (Dec 25, 2024)
5-474893-A-G			Uncertain significance (Apr 29, 2022)
5-474897-G-C			Likely benign (Feb 17, 2024)
5-474900-G-C			Likely benign (Jan 19, 2024)
5-474904-G-T			Uncertain significance (Jan 19, 2025)
5-474914-G-T			Uncertain significance (Oct 05, 2022)
5-474915-C-T			Likely benign (Feb 18, 2022)
5-474920-C-T		Inborn genetic diseases	Uncertain significance (Jan 23, 2024)
5-474924-G-C			Likely benign (Jun 02, 2024)
5-474945-G-A			Likely benign (Sep 14, 2024)
5-474957-C-G			Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP