MNX1-AS2

MNX1 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 7:157006307-157007132

Links

ENSG00000235029 ∙ NCBI:105375606 ∙ ∙ HGNC:40278 ∙ ∙ ∙ 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 MNX1-AS2 gene.

• not provided (12 variants)
• Currarino triad (7 variants)
• MNX1-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MNX1-AS2 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	5	3	6	4	1	19
Total	5	3	6	4	1

Variants in MNX1-AS2

This is a list of pathogenic ClinVar variants found in the MNX1-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-157006387-T-C			Benign (Jul 09, 2018)
7-157006459-G-C			Likely benign (Jan 04, 2024)
7-157006467-G-A			Likely benign (Feb 08, 2023)
7-157006473-G-C			Uncertain significance (Dec 18, 2023)
7-157006478-C-T		Currarino triad	Likely pathogenic (Feb 11, 2022)
7-157006479-C-T		Currarino triad	Uncertain significance (Jul 02, 2020)
7-157006481-G-C			Likely pathogenic (Jan 22, 2024)
7-157006482-G-T			Likely benign (Dec 05, 2023)
7-157006487-C-A		Currarino triad	Pathogenic (Sep 15, 2006)
7-157006499-G-A			Conflicting classifications of pathogenicity (Jan 12, 2021)
7-157006499-G-C		MNX1-related disorder	Uncertain significance (Jul 27, 2023)
7-157006501-G-C			Uncertain significance (Nov 01, 2021)
7-157006519-CG-C			Likely pathogenic (Feb 22, 2017)
7-157006523-T-G		Currarino triad	Uncertain significance (Dec 06, 2022)
7-157006537-T-A			Uncertain significance (Jul 22, 2023)
7-157006539-C-T			Likely benign (Jan 25, 2024)
7-157006551-G-T			Likely pathogenic (Jan 19, 2018)
7-157006556-G-A		Currarino triad	Pathogenic (Dec 01, 1998)
7-157006564-A-C		MNX1-related disorder	Likely pathogenic (May 03, 2024)
7-157006565-G-A			Likely benign (May 15, 2022)
7-157006578-CT-C			Pathogenic (Mar 27, 2018)
7-157006593-G-C			Likely benign (Jul 05, 2022)
7-157006595-T-A		Currarino triad	Pathogenic (Jan 01, 2000)
7-157006598-G-A		MNX1-related disorder	Likely pathogenic (Mar 26, 2024)
7-157006604-G-A		MNX1-related disorder	Likely pathogenic (Sep 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP