TMEM184C-DT

TMEM184C divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 4:147539705-147617264

Links

ENSG00000251298 ∙ ∙ ∙ HGNC:55544 ∙ ∙ ∙ 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 TMEM184C-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM184C-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 TMEM184C-DT

This is a list of pathogenic ClinVar variants found in the TMEM184C-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
4-147539817-C-T		Inborn genetic diseases	Uncertain significance (Feb 06, 2023)
4-147539823-G-A		Mandibulofacial dysostosis with alopecia	Pathogenic (Apr 02, 2015)
4-147539871-T-A		Mandibulofacial dysostosis with alopecia	Uncertain significance (Feb 04, 2022)
4-147539885-T-C		Mandibulofacial dysostosis with alopecia	Benign (Jan 31, 2024)
4-147539921-G-A		Mandibulofacial dysostosis with alopecia	Benign (Jan 31, 2024)
4-147539923-T-C		Inborn genetic diseases	Uncertain significance (Jul 05, 2023)
4-147539946-C-G		Inborn genetic diseases	Uncertain significance (Jun 27, 2022)
4-147539969-G-A		Migraine with or without aura, susceptibility to, 1;Mandibulofacial dysostosis with alopecia	Benign/Likely benign (Jan 31, 2024)
4-147540002-T-C			Benign (May 12, 2021)
4-147540226-G-A			Benign (May 11, 2021)
4-147540414-G-A			Uncertain significance (Jan 17, 2023)
4-147540452-T-C		Migraine with or without aura, susceptibility to, 1;Mandibulofacial dysostosis with alopecia	Benign/Likely benign (Oct 22, 2021)
4-147540484-A-C			Uncertain significance (Jun 17, 2019)
4-147540539-A-C			Benign (May 11, 2021)
4-147542471-C-T			Likely benign (Aug 17, 2022)
4-147542475-C-A			Uncertain significance (May 05, 2023)
4-147542480-A-G		Mandibulofacial dysostosis with alopecia;Migraine with or without aura, susceptibility to, 1 • EDNRA-related disorder	Benign/Likely benign (Jan 22, 2024)
4-147542495-C-T			Uncertain significance (Oct 05, 2022)
4-147542507-C-G			Likely benign (Dec 01, 2023)
4-147542524-C-T			Uncertain significance (Mar 02, 2023)
4-147542547-A-G			Uncertain significance (Jan 29, 2024)
4-147542593-G-C		not specified	Benign (May 04, 2022)
4-147542615-C-A			Uncertain significance (Jul 25, 2022)
4-147542688-G-C			Benign (May 11, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP