PSG7

pregnancy specific beta-1-glycoprotein 7, the group of Pregnancy specific glycoproteins

Basic information

Region (hg38): 19:42924132-42937207

Links

ENSG00000221878 ∙ NCBI:5676 ∙ OMIM:176396 ∙ HGNC:9524 ∙ Uniprot:Q13046 ∙ 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 PSG7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSG7 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				3		3
missense			53	5		58
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	53	8	0

Variants in PSG7

This is a list of pathogenic ClinVar variants found in the PSG7 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-42925779-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-42925811-C-T		not specified	Uncertain significance (Mar 06, 2023)
19-42925826-C-T		not specified	Uncertain significance (Apr 04, 2023)
19-42925830-C-G			Likely benign (Mar 29, 2018)
19-42925839-C-A		not specified	Uncertain significance (Dec 05, 2024)
19-42925844-A-G		not specified	Uncertain significance (Aug 14, 2024)
19-42925853-T-C		not specified	Uncertain significance (Nov 30, 2022)
19-42925889-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-42925890-C-T		not specified	Uncertain significance (Jul 08, 2024)
19-42925896-G-C		not specified	Uncertain significance (Apr 15, 2024)
19-42925898-T-C		not specified	Uncertain significance (Jan 16, 2024)
19-42925918-C-G		not specified	Uncertain significance (Nov 18, 2022)
19-42925929-G-C		not specified	Likely benign (Dec 06, 2021)
19-42925940-T-C		not specified	Uncertain significance (Dec 28, 2022)
19-42925946-T-C		not specified	Uncertain significance (Jan 17, 2024)
19-42925949-G-A		not specified	Uncertain significance (Jul 19, 2023)
19-42925956-A-G		not specified	Uncertain significance (Aug 17, 2022)
19-42925961-A-C		not specified	Uncertain significance (Oct 22, 2021)
19-42925965-A-C		not specified	Uncertain significance (Jan 10, 2023)
19-42925967-A-C		not specified	Uncertain significance (Mar 28, 2024)
19-42925968-G-A		not specified	Uncertain significance (Oct 12, 2022)
19-42925969-G-C		not specified	Uncertain significance (Sep 22, 2023)
19-42926001-G-A		not specified	Uncertain significance (Jul 15, 2021)
19-42926008-T-G		not specified	Uncertain significance (Dec 07, 2024)
19-42926013-G-A		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Essentials

• essential_gene_CRISPR2: N

Gene ontology

• Biological process: female pregnancy
• Cellular component: extracellular region