TMEM123-DT

TMEM123 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:102451790-102462045

Links

ENSG00000255337 ∙ NCBI:101928424 ∙ ∙ HGNC:55502 ∙ ∙ ∙ 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 TMEM123-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM123-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 TMEM123-DT

This is a list of pathogenic ClinVar variants found in the TMEM123-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
11-102452548-C-A		not specified	Uncertain significance (Jan 29, 2024)
11-102452566-G-C		not specified	Uncertain significance (Nov 12, 2024)
11-102452607-C-G		not specified	Uncertain significance (Feb 26, 2025)
11-102452613-C-A		not specified	Uncertain significance (Jan 20, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP