MROH7-TTC4

MROH7-TTC4 readthrough (NMD candidate)

Basic information

Region (hg38): 1:54641785-54742308

Links

ENSG00000271723 ∙ NCBI:100527960 ∙ ∙ HGNC:49180 ∙ ∙ ∙ 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 MROH7-TTC4 gene.

• Inborn genetic diseases (64 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH7-TTC4 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)			3	2		5
splice region						0
non coding			60	6		66
Total	0	0	63	8	0

Variants in MROH7-TTC4

This is a list of pathogenic ClinVar variants found in the MROH7-TTC4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54652948-A-G		not specified	Uncertain significance (Jan 22, 2024)
1-54652960-C-G		not specified	Uncertain significance (Dec 28, 2023)
1-54653092-G-C		not specified	Uncertain significance (Mar 29, 2022)
1-54653117-C-G			Likely benign (Jan 01, 2023)
1-54653159-A-G		not specified	Uncertain significance (Sep 22, 2022)
1-54653198-C-T		not specified	Uncertain significance (Feb 28, 2023)
1-54653242-G-T		not specified	Uncertain significance (Nov 30, 2022)
1-54653282-G-C		not specified	Uncertain significance (Nov 28, 2023)
1-54653284-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-54653285-G-A		not specified	Likely benign (Dec 20, 2023)
1-54653285-G-T		not specified	Uncertain significance (Dec 19, 2022)
1-54653333-C-T		not specified	Uncertain significance (Nov 08, 2022)
1-54653520-A-G			Likely benign (Oct 01, 2022)
1-54653594-G-T		not specified	Uncertain significance (Mar 29, 2022)
1-54653618-A-G		not specified	Uncertain significance (Jun 10, 2022)
1-54653638-G-A		not specified	Uncertain significance (Nov 20, 2023)
1-54653645-T-G		not specified	Uncertain significance (Jun 29, 2022)
1-54653749-A-G		not specified	Uncertain significance (Apr 25, 2022)
1-54653806-C-G		not specified	Uncertain significance (Jan 23, 2024)
1-54653825-T-A		not specified	Uncertain significance (Dec 17, 2023)
1-54653879-A-G		not specified	Uncertain significance (Feb 22, 2023)
1-54653932-A-T		not specified	Uncertain significance (Oct 26, 2022)
1-54653944-G-A		not specified	Uncertain significance (Jan 12, 2024)
1-54654022-C-T		not specified	Uncertain significance (Aug 17, 2022)
1-54654114-C-A			Likely benign (Jan 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium