POM121L7P

POM121 transmembrane nucleoporin like 7 pseudogene

Basic information

Region (hg38): 22:21125660-21128063

Previous symbols: [ "POM121L7" ]

Links

ENSG00000239511 ∙ NCBI:728418 ∙ ∙ HGNC:35444 ∙ ∙ ∙ 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 POM121L7P gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POM121L7P 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				2		2
Total	0	0	0	2	0

Variants in POM121L7P

This is a list of pathogenic ClinVar variants found in the POM121L7P region.

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

Position	Type	Phenotype	Significance	ClinVar
22-21126503-G-A			Likely benign (Jan 01, 2024)
22-21126512-G-A			Likely benign (Jan 01, 2024)
22-21126623-A-G			Likely benign (Jul 01, 2024)
22-21126878-C-T			Likely benign (Mar 01, 2023)
22-21127238-C-T			Likely benign (Jun 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.394