FRG1HP

FSHD region gene 1 family member H, pseudogene

Basic information

Region (hg38): 9:40992426-41218410

Links

ENSG00000276291 ∙ NCBI:100132352 ∙ ∙ HGNC:51767 ∙ ∙ ∙ 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 FRG1HP gene.

• Inborn genetic diseases (18 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRG1HP 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			17	2		19
Total	0	0	17	2	0

Variants in FRG1HP

This is a list of pathogenic ClinVar variants found in the FRG1HP region.

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

Position	Type	Phenotype	Significance	ClinVar
9-41127149-C-T		not specified	Uncertain significance (Mar 20, 2024)
9-41127170-C-A		not specified	Uncertain significance (Nov 24, 2024)
9-41127176-C-T		not specified	Likely benign (Jul 08, 2022)
9-41127218-C-T		not specified	Uncertain significance (Aug 15, 2023)
9-41127224-C-G		not specified	Uncertain significance (Apr 07, 2023)
9-41127231-T-A		not specified	Uncertain significance (Jan 21, 2025)
9-41127233-C-T		not specified	Uncertain significance (Oct 20, 2021)
9-41127234-A-G		not specified	Uncertain significance (Oct 07, 2024)
9-41127294-T-C		not specified	Uncertain significance (May 20, 2024)
9-41127314-C-T		not specified	Uncertain significance (Dec 30, 2024)
9-41127323-G-A		not specified	Uncertain significance (Jan 19, 2024)
9-41127338-C-T		not specified	Uncertain significance (Aug 04, 2024)
9-41127359-C-G		not specified	Uncertain significance (Feb 08, 2025)
9-41127366-C-G		not specified	Uncertain significance (Jul 31, 2024)
9-41127401-C-T		not specified	Uncertain significance (Oct 25, 2023)
9-41127441-G-A		not specified	Uncertain significance (Sep 10, 2024)
9-41127448-C-A		not specified	Uncertain significance (May 20, 2024)
9-41127471-G-A		not specified	Uncertain significance (Aug 15, 2024)
9-41127512-G-T		not specified	Likely benign (Jan 07, 2025)
9-41127530-G-T		not specified	Uncertain significance (Jan 08, 2024)
9-41127543-C-A		not specified	Uncertain significance (Dec 11, 2024)
9-41127545-C-G		not specified	Uncertain significance (Oct 10, 2023)
9-41127586-A-T		not specified	Uncertain significance (Jul 14, 2024)
9-41127612-G-C		not specified	Uncertain significance (Nov 17, 2023)
9-41127633-G-T		not specified	Uncertain significance (Jan 10, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP