TTC32-DT

TTC32 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:19901333-19903501

Links

ENSG00000271991 ∙ ∙ ∙ HGNC:55236 ∙ ∙ ∙ 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 TTC32-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC32-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 TTC32-DT

This is a list of pathogenic ClinVar variants found in the TTC32-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
2-19901731-C-T		not specified	Uncertain significance (Oct 28, 2024)
2-19901746-G-A		not specified	Uncertain significance (Aug 02, 2021)
2-19901758-C-T		not specified	Uncertain significance (May 24, 2024)
2-19901767-G-C		not specified	Uncertain significance (Feb 10, 2022)
2-19901771-C-G		not specified	Uncertain significance (Dec 07, 2024)
2-19901776-C-A		not specified	Uncertain significance (Aug 12, 2022)
2-19901790-C-T		not specified	Uncertain significance (Sep 03, 2024)
2-19901798-G-T		not specified	Uncertain significance (Dec 14, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP