ATP13A4-AS1

ATP13A4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:193506780-193555586

Links

ENSG00000225473 ∙ NCBI:101929198 ∙ ∙ HGNC:41095 ∙ ∙ ∙ 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 ATP13A4-AS1 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP13A4-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
splice region						0
non coding			1			1
Total	0	0	2	0	0

Variants in ATP13A4-AS1

This is a list of pathogenic ClinVar variants found in the ATP13A4-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
3-193514699-G-T		not specified	Uncertain significance (Jan 31, 2023)
3-193514750-T-C		ATP13A4-related disorder	Likely benign (Jul 27, 2018)
3-193514760-C-T		not specified	Uncertain significance (May 30, 2022)
3-193514820-C-T		not specified	Uncertain significance (Sep 07, 2022)
3-193514841-G-A		not specified	Uncertain significance (Jun 18, 2024)
3-193514846-C-A		not specified	Uncertain significance (Jul 05, 2023)
3-193514861-C-T		not specified	Uncertain significance (May 22, 2023)
3-193554772-C-T		not specified	Uncertain significance (Nov 12, 2021)
3-193554773-G-A		ATP13A4-related disorder	Likely benign (Sep 05, 2019)
3-193554788-A-T		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP