YPEL3-DT

YPEL3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:30096363-30105193

Links

ENSG00000250616

∙ NCBI:101928595 ∙ ∙ HGNC:55547 ∙ ∙ ∙ 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 YPEL3-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the YPEL3-DT 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			3 clinvar			3
Total	0	0	3	0	0

Variants in YPEL3-DT

This is a list of pathogenic ClinVar variants found in the YPEL3-DT region.

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

Position	Phenotype	Significance	ClinVar
16-30104916-G-A	not specified	Uncertain significance (Nov 09, 2022)	2366969
16-30104936-G-A	not specified	Uncertain significance (May 30, 2023)	2561319
16-30104958-C-T	not specified	Uncertain significance (Jan 16, 2025)	3853356
16-30104981-G-A	not specified	Uncertain significance (Jan 23, 2025)	3853354
16-30105009-C-T	not specified	Uncertain significance (Sep 15, 2021)	3099296

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP