GIMAP1-GIMAP5

GIMAP1-GIMAP5 readthrough

Basic information

Region (hg38): 7:150716667-150743646

Links

ENSG00000281887 ∙ NCBI:100527949 ∙ ∙ HGNC:51257 ∙ ∙ ∙ 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 GIMAP1-GIMAP5 gene.

• Inborn genetic diseases (14 variants)
• not provided (5 variants)
• Portal hypertension (4 variants)
• Portal hypertension, noncirrhotic, 2 (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIMAP1-GIMAP5 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				1	2	3
missense		3	6	2	1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7			7
Total	0	3	13	3	3

Variants in GIMAP1-GIMAP5

This is a list of pathogenic ClinVar variants found in the GIMAP1-GIMAP5 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150720100-T-A			Benign (Jan 08, 2018)
7-150720269-T-C			Benign (Jan 08, 2018)
7-150720477-C-T		not specified	Uncertain significance (Feb 23, 2023)
7-150720518-C-T		not specified	Uncertain significance (Feb 13, 2024)
7-150720528-G-A		not specified	Uncertain significance (Mar 06, 2023)
7-150720540-C-A		not specified	Uncertain significance (Sep 14, 2023)
7-150720575-C-T		not specified	Uncertain significance (Sep 15, 2021)
7-150720599-G-A		not specified	Uncertain significance (Aug 02, 2022)
7-150720729-G-A		not specified	Uncertain significance (Dec 21, 2023)
7-150720818-A-G		not specified	Uncertain significance (May 05, 2023)
7-150720822-G-A		not specified	Uncertain significance (Jun 06, 2023)
7-150737538-C-T		not specified	Uncertain significance (Aug 21, 2023)
7-150737553-G-A		not specified	Likely benign (Jun 17, 2022)
7-150737572-G-C		not specified	Uncertain significance (Mar 12, 2024)
7-150737605-G-A		not specified	Uncertain significance (Feb 28, 2023)
7-150737646-G-A		not specified	Uncertain significance (Aug 30, 2022)
7-150737687-C-G		not specified	Uncertain significance (Sep 14, 2022)
7-150742279-T-C		Portal hypertension • Portal hypertension, noncirrhotic, 2	Pathogenic/Likely pathogenic (Aug 03, 2021)
7-150742422-G-C		not specified	Uncertain significance (Dec 11, 2023)
7-150742465-C-T		Portal hypertension • Portal hypertension, noncirrhotic, 2	Pathogenic/Likely pathogenic (Aug 02, 2021)
7-150742671-C-T		not specified	Uncertain significance (Apr 14, 2022)
7-150742672-G-A		not specified	Likely benign (Aug 28, 2023)
7-150742750-T-C		Portal hypertension, noncirrhotic, 2 • Portal hypertension	Conflicting classifications of pathogenicity (Jan 04, 2024)
7-150742806-C-T		Portal hypertension • Portal hypertension, noncirrhotic, 2	Pathogenic/Likely pathogenic (Aug 03, 2021)
7-150742880-C-A			Likely benign (Jun 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: endoplasmic reticulum;integral component of membrane
• Molecular function: GTP binding