SLC7A14-AS1

SLC7A14 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:170448639-170860993

Links

ENSG00000285051 ∙ NCBI:101928583 ∙ ∙ HGNC:54092 ∙ ∙ ∙ 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 SLC7A14-AS1 gene.

• not provided (419 variants)
• Inborn genetic diseases (39 variants)
• Retinitis pigmentosa 68 (10 variants)
• not specified (5 variants)
• Retinal dystrophy (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC7A14-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)			1	1		2
splice region						0
non coding	2		257	156	17	432
Total	2	0	258	157	17

Variants in SLC7A14-AS1

This is a list of pathogenic ClinVar variants found in the SLC7A14-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
3-170467055-C-G			Uncertain significance (Aug 04, 2020)
3-170467065-G-C			Uncertain significance (Sep 08, 2023)
3-170467074-A-G		not specified	Uncertain significance (Dec 22, 2023)
3-170467079-A-T			Uncertain significance (Feb 05, 2022)
3-170467081-C-A			Uncertain significance (Oct 01, 2020)
3-170467089-A-G		Retinal dystrophy • not specified	Uncertain significance (Oct 03, 2023)
3-170467091-C-T			Likely benign (Aug 28, 2023)
3-170467094-G-A			Benign (Dec 11, 2023)
3-170467110-T-C			Uncertain significance (Oct 17, 2022)
3-170467114-GTTTGCT-G			Uncertain significance (Jul 07, 2023)
3-170467116-T-G			Uncertain significance (Dec 03, 2023)
3-170467130-C-T		SLC7A14-related disorder	Likely benign (Jun 05, 2023)
3-170467139-A-C			Uncertain significance (Oct 26, 2022)
3-170467139-A-G			Likely benign (Feb 16, 2023)
3-170467145-C-T		not specified	Benign/Likely benign (May 01, 2024)
3-170467146-C-T		Retinal dystrophy	Uncertain significance (Oct 01, 2023)
3-170467147-G-A			Uncertain significance (Apr 24, 2023)
3-170467148-G-A			Likely benign (Jul 06, 2022)
3-170467150-C-T			Uncertain significance (Dec 01, 2023)
3-170467154-T-C			Likely benign (May 12, 2023)
3-170467157-C-T			Likely benign (Nov 30, 2022)
3-170467160-C-T			Likely benign (Jan 25, 2024)
3-170467161-G-A			Benign (Jan 31, 2024)
3-170467175-T-C			Likely benign (Aug 16, 2022)
3-170467183-A-G		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP