NGF-AS1

NGF antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:115229326-115368072

Links

ENSG00000228035 ∙ ∙ ∙ HGNC:53922 ∙ ∙ ∙ 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 NGF-AS1 gene.

• Congenital sensory neuropathy with selective loss of small myelinated fibers (140 variants)
• Inborn genetic diseases (30 variants)
• not provided (26 variants)
• not specified (9 variants)
• Charcot-Marie-Tooth disease (3 variants)
• NGF-Related Disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NGF-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	3		99	55	8	165
Total	3	0	99	55	8

Highest pathogenic variant AF is 0.00000658

Variants in NGF-AS1

This is a list of pathogenic ClinVar variants found in the NGF-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
1-115285950-A-C		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Jan 12, 2018)
1-115286090-T-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Nov 22, 2022)
1-115286107-A-G		Inborn genetic diseases	Uncertain significance (Nov 09, 2024)
1-115286109-A-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Jan 13, 2018)
1-115286113-GCC-G		Charcot-Marie-Tooth disease	Uncertain significance (-)
1-115286114-CCG-T		Congenital sensory neuropathy with selective loss of small myelinated fibers • Peripheral neuropathy	Pathogenic (Oct 04, 2024)
1-115286115-C-G		NGF-related disorder	Likely benign (Sep 13, 2019)
1-115286115-C-T		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Sep 30, 2022)
1-115286116-G-T		Charcot-Marie-Tooth disease • Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Jan 25, 2019)
1-115286119-T-C			Uncertain significance (Oct 05, 2023)
1-115286124-C-T		not specified	Likely benign (Apr 04, 2017)
1-115286126-G-A		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (May 10, 2019)
1-115286131-A-C			Uncertain significance (Dec 22, 2016)
1-115286134-C-A		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Sep 24, 2019)
1-115286135-G-A		Congenital sensory neuropathy with selective loss of small myelinated fibers • not specified	Likely pathogenic (Mar 14, 2024)
1-115286139-G-A		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Jul 15, 2022)
1-115286151-G-A		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Jan 05, 2024)
1-115286158-A-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Sep 14, 2021)
1-115286164-A-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Mar 19, 2019)
1-115286166-C-T		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Jul 10, 2022)
1-115286183-G-C			Uncertain significance (Nov 01, 2021)
1-115286187-C-T		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Nov 29, 2020)
1-115286196-A-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely benign (Apr 11, 2023)
1-115286221-A-G		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Oct 03, 2021)
1-115286223-G-A		Congenital sensory neuropathy with selective loss of small myelinated fibers	Uncertain significance (Nov 13, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP