RETREG1-AS1

RETREG1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:16615926-16681905

Links

ENSG00000246214 ∙ NCBI:101929524 ∙ ∙ HGNC:55551 ∙ ∙ ∙ 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 RETREG1-AS1 gene.

• not provided (106 variants)
• Inborn genetic diseases (56 variants)
• Neuropathy, hereditary sensory and autonomic, type 2B (17 variants)
• not specified (7 variants)
• Hereditary sensory and autonomic neuropathy type 2 (2 variants)
• Hereditary spastic paraplegia (1 variants)
• Charcot-Marie-Tooth disease (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RETREG1-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	7	1	92	41	11	152
Total	7	1	92	41	11

Highest pathogenic variant AF is 0.00000659

Variants in RETREG1-AS1

This is a list of pathogenic ClinVar variants found in the RETREG1-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
5-16616636-T-A			Likely benign (Feb 14, 2023)
5-16616650-A-C			Likely pathogenic (Nov 13, 2020)
5-16616657-CAGCAGGTTGGCAGCGACGAAGCCG-C		Hereditary spastic paraplegia	Uncertain significance (Sep 22, 2021)
5-16616664-T-C			Uncertain significance (Nov 10, 2021)
5-16616672-G-A			Likely benign (Mar 09, 2023)
5-16616677-A-G		Neuropathy, hereditary sensory and autonomic, type 2B	Uncertain significance (Jan 13, 2018)
5-16616681-G-A			Likely benign (Oct 22, 2023)
5-16616683-G-C		Inborn genetic diseases	Uncertain significance (Jun 22, 2022)
5-16616686-G-A			Likely benign (Jan 15, 2024)
5-16616687-G-C		Inborn genetic diseases	Uncertain significance (Oct 16, 2024)
5-16616692-G-C		Inborn genetic diseases	Uncertain significance (Feb 03, 2022)
5-16616693-C-T			Likely benign (Aug 26, 2022)
5-16616696-C-A			Likely benign (Oct 10, 2023)
5-16616696-C-T			Likely benign (Jun 07, 2022)
5-16616708-G-A		Neuropathy, hereditary sensory and autonomic, type 2B	Conflicting classifications of pathogenicity (Oct 23, 2023)
5-16616709-C-T			Uncertain significance (Jun 13, 2023)
5-16616710-T-G			Uncertain significance (Nov 10, 2021)
5-16616722-C-T		Inborn genetic diseases	Uncertain significance (Oct 05, 2022)
5-16616723-G-A			Likely benign (Oct 26, 2020)
5-16616723-G-C			Likely benign (Jul 21, 2021)
5-16616726-G-T			Likely benign (Jul 17, 2018)
5-16616735-C-T			Likely benign (Jan 22, 2024)
5-16616738-C-T			Pathogenic (Aug 15, 2022)
5-16616740-A-G		Inborn genetic diseases	Uncertain significance (Oct 01, 2024)
5-16616742-A-G			Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP