NDP-AS1

NDP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:43949732-43971582

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

Variants in NDP-AS1

This is a list of pathogenic ClinVar variants found in the NDP-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
X-43949785-C-T		History of neurodevelopmental disorder	Conflicting classifications of pathogenicity (Dec 23, 2018)
X-43949789-G-C		not specified	Benign (Apr 25, 2019)
X-43949796-G-T		NDP-related disorder	Uncertain significance (Mar 05, 2019)
X-43949808-G-T			Likely pathogenic (Jul 18, 2019)
X-43949812-T-C			Uncertain significance (Oct 05, 2023)
X-43949813-C-A			Likely pathogenic (Aug 19, 2022)
X-43949814-C-T			Benign (Jan 06, 2024)
X-43949816-C-T			Conflicting classifications of pathogenicity (Aug 23, 2023)
X-43949817-G-A			Likely benign (Oct 02, 2023)
X-43949817-G-C		Retinal dystrophy	Pathogenic (May 27, 2024)
X-43949817-G-T		Atrophia bulborum hereditaria	Pathogenic (Jul 28, 2023)
X-43949823-A-T		Retinal dystrophy	Pathogenic (Jan 01, 2007)
X-43949831-G-A		Exudative vitreoretinopathy 2, X-linked	Pathogenic (Apr 27, 2023)
X-43949833-A-T			Likely pathogenic (Oct 22, 2023)
X-43949836-T-C			Uncertain significance (Feb 23, 2015)
X-43949838-C-A			Likely benign (Jan 28, 2022)
X-43949839-C-A		Exudative vitreoretinopathy 2, X-linked	Pathogenic (Sep 01, 1996)
X-43949839-C-T		Retinal dystrophy	Pathogenic (Jan 01, 2022)
X-43949840-G-A		Exudative vitreoretinopathy 2, X-linked • Atrophia bulborum hereditaria • Retinal dystrophy	Pathogenic/Likely pathogenic (Jul 12, 2023)
X-43949846-T-G		Atrophia bulborum hereditaria	Likely pathogenic (May 25, 2021)
X-43949851-G-GTGAGTCGCATGCCCCC		Exudative vitreoretinopathy 2, X-linked;Atrophia bulborum hereditaria	Likely pathogenic (-)
X-43949855-G-A			Uncertain significance (Nov 13, 2022)
X-43949858-G-A			Pathogenic (Dec 30, 2023)
X-43949861-T-TG			Pathogenic (Jul 03, 2022)
X-43949862-GC-G			Likely pathogenic (Jul 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP