LURAP1L-AS1

LURAP1L antisense RNA 1, the group of Antisense RNAs

Basic information

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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP