MMP24OS

MMP24 opposite strand

Basic information

Region (hg38): 20:35201745-35278131

Previous symbols: [ "MMP24-AS1" ]

Links

ENSG00000126005 ∙ NCBI:101410538 ∙ ∙ HGNC:44421 ∙ Uniprot:A0A0U1RRL7 ∙ AlphaFold ∙ 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 MMP24OS gene.

• Inborn genetic diseases (29 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP24OS 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			28	2	1	31
Total	0	0	28	2	1

Variants in MMP24OS

This is a list of pathogenic ClinVar variants found in the MMP24OS region.

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

Position	Type	Phenotype	Significance	ClinVar
20-35226746-G-A		not specified	Uncertain significance (Apr 07, 2023)
20-35226757-G-A		not specified	Uncertain significance (Oct 10, 2023)
20-35226776-C-A		not specified	Uncertain significance (Apr 07, 2023)
20-35226779-C-A		not specified	Uncertain significance (Apr 07, 2023)
20-35226781-C-T		not specified	Likely benign (May 09, 2022)
20-35226791-C-T		not specified	Uncertain significance (Jul 25, 2023)
20-35226803-A-T		not specified	Uncertain significance (Apr 07, 2023)
20-35226830-T-C		not specified	Uncertain significance (Apr 07, 2023)
20-35226842-T-G		not specified	Uncertain significance (Nov 17, 2023)
20-35226878-C-T		not specified	Uncertain significance (Apr 12, 2024)
20-35226886-G-A		not specified	Uncertain significance (Apr 05, 2023)
20-35226886-G-C		not specified	Uncertain significance (Mar 23, 2022)
20-35226892-G-A		not specified	Uncertain significance (Aug 10, 2024)
20-35226956-A-C		not specified	Uncertain significance (Apr 07, 2023)
20-35226961-G-A		not specified	Uncertain significance (Apr 07, 2023)
20-35226962-C-T		not specified	Uncertain significance (Apr 07, 2023)
20-35226977-C-T		not specified	Uncertain significance (Apr 07, 2023)
20-35226979-G-A		not specified	Uncertain significance (Jul 20, 2021)
20-35246862-A-G		not specified	Uncertain significance (Dec 21, 2022)
20-35246882-C-T		not specified	Uncertain significance (Jun 03, 2022)
20-35246892-C-G		not specified	Uncertain significance (Oct 27, 2022)
20-35246910-C-T		not specified	Uncertain significance (Apr 23, 2024)
20-35246955-C-T		not specified	Uncertain significance (Oct 21, 2024)
20-35251922-G-A		not specified	Uncertain significance (Jul 12, 2023)
20-35251961-G-A		not specified	Uncertain significance (Dec 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.440