MMP25-AS1

MMP25 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:3037233-3059370

Links

ENSG00000261971 ∙ NCBI:100507419 ∙ ∙ HGNC:51372 ∙ ∙ ∙ 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 MMP25-AS1 gene.

• Inborn genetic diseases (33 variants)
• Mendelian syndromes with cleft lip/palate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP25-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			33	1		34
Total	0	0	33	1	0

Variants in MMP25-AS1

This is a list of pathogenic ClinVar variants found in the MMP25-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
16-3046936-C-T		not specified	Uncertain significance (Mar 04, 2024)
16-3046940-T-A		not specified	Uncertain significance (Feb 17, 2024)
16-3047002-G-A		not specified	Uncertain significance (Jul 16, 2021)
16-3047427-C-T		not specified	Uncertain significance (Feb 05, 2024)
16-3047452-A-C		not specified	Uncertain significance (Sep 16, 2021)
16-3047505-G-A		not specified	Uncertain significance (Nov 08, 2022)
16-3047530-C-G		not specified	Uncertain significance (Sep 13, 2023)
16-3047538-G-T		not specified	Uncertain significance (Dec 07, 2022)
16-3050014-G-A		not specified	Uncertain significance (Jan 19, 2024)
16-3050086-C-T		not specified	Uncertain significance (Apr 12, 2024)
16-3050090-G-A		not specified	Uncertain significance (May 07, 2024)
16-3050095-C-T		not specified	Uncertain significance (Nov 13, 2023)
16-3050096-G-A		not specified	Uncertain significance (Jun 21, 2023)
16-3050108-G-A		not specified	Uncertain significance (Feb 26, 2024)
16-3050128-C-T		Mendelian syndromes with cleft lip/palate	Uncertain significance (-)
16-3050310-T-G		not specified	Uncertain significance (Oct 12, 2022)
16-3050412-G-A		not specified	Uncertain significance (Nov 07, 2022)
16-3050412-G-C		not specified	Uncertain significance (Jan 31, 2024)
16-3050414-G-A		not specified	Uncertain significance (Mar 03, 2022)
16-3050444-G-T		not specified	Uncertain significance (Dec 19, 2022)
16-3050463-C-A		not specified	Uncertain significance (May 20, 2024)
16-3050492-A-G		not specified	Uncertain significance (Feb 21, 2024)
16-3050501-G-T		not specified	Uncertain significance (Jan 20, 2023)
16-3057054-T-C		not specified	Uncertain significance (Nov 27, 2023)
16-3057110-C-T		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP