LURAP1L-AS1

LURAP1L antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:12631434-12814382

Links

ENSG00000235448 ∙ ∙ ∙ HGNC:49761 ∙ ∙ ∙ 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 LURAP1L-AS1 gene.

• not provided (194 variants)
• Oculocutaneous albinism type 3 (57 variants)
• not specified (17 variants)
• Inborn genetic diseases (14 variants)
• Oculocutaneous albinism (4 variants)
• Oculocutaneous albinism type 3;Skin/hair/eye pigmentation, variation in, 11 (4 variants)
• TYRP1-related condition (2 variants)
• Albinism (2 variants)
• Skin/hair/eye pigmentation, variation in, 11;Oculocutaneous albinism type 3 (2 variants)
• Nonsyndromic Oculocutaneous Albinism (2 variants)
• Ocular albinism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LURAP1L-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	12	10	138	68	11	239
Total	12	10	138	68	11

Highest pathogenic variant AF is 0.0000658

Variants in LURAP1L-AS1

This is a list of pathogenic ClinVar variants found in the LURAP1L-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
9-12693397-G-A		Oculocutaneous albinism type 3	Uncertain significance (Jan 12, 2018)
9-12693403-G-T		Oculocutaneous albinism type 3	Benign (Jan 12, 2018)
9-12693445-G-T		Oculocutaneous albinism type 3	Uncertain significance (Jan 12, 2018)
9-12693453-T-C		Oculocutaneous albinism type 3	Uncertain significance (Jan 13, 2018)
9-12693927-C-T		Oculocutaneous albinism type 3 • Oculocutaneous albinism type 3;Skin/hair/eye pigmentation, variation in, 11	Uncertain significance (Aug 13, 2021)
9-12693928-G-A		Oculocutaneous albinism type 3	Uncertain significance (Jan 13, 2018)
9-12693928-G-T		Oculocutaneous albinism type 3	Uncertain significance (Jan 13, 2018)
9-12693982-C-G		Oculocutaneous albinism type 3	Uncertain significance (Jan 12, 2018)
9-12693991-A-G		Oculocutaneous albinism type 3 • TYRP1-related disorder	Uncertain significance (Jan 13, 2018)
9-12693999-G-T			Pathogenic (Jan 29, 2024)
9-12694002-T-C			Likely benign (Jun 07, 2023)
9-12694004-C-T			Uncertain significance (Feb 11, 2022)
9-12694005-T-C			Likely benign (Oct 07, 2023)
9-12694007-C-T			Uncertain significance (Nov 01, 2022)
9-12694017-C-A			Likely benign (Aug 19, 2023)
9-12694017-C-G			Benign (Jan 22, 2024)
9-12694018-T-A			Uncertain significance (Jun 08, 2022)
9-12694019-C-T			Uncertain significance (Apr 24, 2021)
9-12694024-G-C			Uncertain significance (Dec 02, 2021)
9-12694031-T-G			Uncertain significance (Jul 30, 2022)
9-12694039-C-A			Uncertain significance (Jul 30, 2022)
9-12694042-T-A			Uncertain significance (Aug 19, 2022)
9-12694043-TG-T			Pathogenic (Oct 26, 2023)
9-12694044-G-T			Uncertain significance (Mar 20, 2021)
9-12694063-C-T		Oculocutaneous albinism type 3	Likely benign (Jan 19, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP