NDP-AS1

NDP antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000236276 ∙ ∙ ∙ HGNC:40395 ∙ ∙ ∙ 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 NDP-AS1 gene.

• not provided (104 variants)
• Atrophia bulborum hereditaria (29 variants)
• Inborn genetic diseases (7 variants)
• Exudative vitreoretinopathy 2, X-linked (6 variants)
• not specified (3 variants)
• Short lingual frenulum;High myopia;Remnants of the hyaloid vascular system;Nystagmus (1 variants)
• Retinal detachment (1 variants)
• Exudative vitreoretinopathy, X-linked (1 variants)
• History of neurodevelopmental disorder (1 variants)
• Exudative retinopathy;Familial exudative vitreoretinopathy (1 variants)
• Hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDP-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	29	22	37	32	9	129
Total	29	22	37	32	9

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP