SAP30-DT

SAP30 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 4:173349543-173371866

Links

ENSG00000272870 ∙ NCBI:105377540 ∙ ∙ HGNC:54424 ∙ ∙ ∙ 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 SAP30-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAP30-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						0
Total	0	0	0	0	0

Variants in SAP30-DT

This is a list of pathogenic ClinVar variants found in the SAP30-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
4-173371198-C-T		not specified	Uncertain significance (May 01, 2022)
4-173371244-C-T		not specified	Uncertain significance (Feb 28, 2023)
4-173371292-G-A		not specified	Uncertain significance (Oct 11, 2024)
4-173371315-C-A		not specified	Uncertain significance (Dec 31, 2024)
4-173371321-G-A		not specified	Uncertain significance (Dec 02, 2024)
4-173371346-C-T		not specified	Uncertain significance (Jan 08, 2024)
4-173371354-G-A		not specified	Uncertain significance (Feb 27, 2024)
4-173371357-G-A		not specified	Uncertain significance (Nov 25, 2024)
4-173371378-C-G		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP