PVALEF

parvalbumin like EF-hand containing

Basic information

Region (hg38): 17:81165507-81183166

Previous symbols: [ "AATK-AS1" ]

Links

ENSG00000225180 ∙ NCBI:388428 ∙ ∙ HGNC:40053 ∙ Uniprot:A0A1B0GWK0 ∙ 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 PVALEF gene.

Variants pathogenicity by type

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

Variants in PVALEF

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

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

Position	Type	Phenotype	Significance	ClinVar
17-81165985-G-C		not specified	Uncertain significance (Dec 16, 2022)
17-81182044-G-A			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP