MNX1-AS1

MNX1 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 7:157007750-157017621

Links

ENSG00000243479 ∙ NCBI:645249 ∙ ∙ HGNC:48954 ∙ ∙ ∙ 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-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MNX1-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					1	1
Total	0	0	0	0	1

Variants in MNX1-AS1

This is a list of pathogenic ClinVar variants found in the MNX1-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
7-157008772-T-A			Benign (Jul 09, 2018)
7-157008967-C-G			Benign (Jul 09, 2018)
7-157008993-G-T			Likely benign (Nov 01, 2024)
7-157009006-G-T			Benign (Jul 05, 2018)
7-157009038-TGA-T			Uncertain significance (May 16, 2022)
7-157009230-G-A			Benign (Jul 09, 2018)
7-157009640-G-T			Likely benign (Sep 03, 2024)
7-157009643-G-A			Likely benign (Nov 07, 2022)
7-157009648-C-T			Likely benign (Feb 02, 2024)
7-157009650-G-C		Currarino triad	Benign/Likely benign (Jan 20, 2025)
7-157009650-G-T			Likely benign (Jun 03, 2023)
7-157009651-G-A			Likely benign (Nov 04, 2023)
7-157009662-T-C		Currarino triad	Uncertain significance (Jan 24, 2025)
7-157009664-GA-G			Pathogenic (Sep 21, 2021)
7-157009669-C-G			Uncertain significance (May 17, 2021)
7-157009669-C-T			Uncertain significance (May 16, 2024)
7-157009673-C-T		Inborn genetic diseases	Uncertain significance (Apr 04, 2023)
7-157009675-T-C		Currarino triad	Uncertain significance (Jun 30, 2024)
7-157009676-C-G		Currarino triad	Uncertain significance (Mar 17, 2024)
7-157009682-C-T			Likely benign (Jun 26, 2022)
7-157009685-G-A			Likely benign (Nov 01, 2022)
7-157009686-A-T		MNX1-related disorder	Uncertain significance (Apr 04, 2024)
7-157009689-A-T		Currarino triad	Uncertain significance (May 21, 2024)
7-157009693-C-T			Uncertain significance (Oct 13, 2023)
7-157009695-G-C		Currarino triad	Uncertain significance (Mar 22, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP