TMEM30A-DT

TMEM30A divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 6:75284151-75337927

Links

ENSG00000225793 ∙ NCBI:100506804 ∙ ∙ HGNC:48985 ∙ ∙ ∙ 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 TMEM30A-DT gene.

• Inborn genetic diseases (34 variants)
• not provided (5 variants)
• Abnormality of neuronal migration (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM30A-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			34		7	41
Total	0	0	34	0	7

Variants in TMEM30A-DT

This is a list of pathogenic ClinVar variants found in the TMEM30A-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
6-75284577-C-G		not specified	Uncertain significance (Mar 19, 2024)
6-75284577-C-T		not specified	Uncertain significance (May 26, 2022)
6-75284580-C-G		not specified	Uncertain significance (Apr 29, 2024)
6-75308704-C-A		not specified	Uncertain significance (Aug 16, 2022)
6-75308704-C-G		not specified	Uncertain significance (Apr 26, 2024)
6-75308849-T-G		not specified	Uncertain significance (Aug 02, 2021)
6-75308893-C-G		not specified	Uncertain significance (Mar 17, 2023)
6-75312407-G-T		not specified	Uncertain significance (Apr 24, 2024)
6-75312434-G-A		Neuromuscular disorder, congenital, with dysmorphic facies	Pathogenic (Apr 03, 2024)
6-75312455-G-A			Benign (Dec 20, 2018)
6-75312473-G-C		not specified	Uncertain significance (Jan 23, 2024)
6-75312495-T-C		not specified	Uncertain significance (Nov 08, 2022)
6-75312516-C-G		Abnormality of neuronal migration	Benign (Oct 31, 2014)
6-75312731-C-T		not specified	Uncertain significance (Dec 12, 2023)
6-75312732-G-A		not specified	Uncertain significance (Dec 27, 2022)
6-75312738-T-C		not specified	Uncertain significance (Mar 06, 2023)
6-75312803-A-C		not specified	Uncertain significance (Mar 30, 2022)
6-75312825-G-A			Benign (Dec 20, 2018)
6-75312849-C-T		not specified	Uncertain significance (Oct 03, 2022)
6-75312898-C-T		not specified	Uncertain significance (Apr 15, 2022)
6-75312949-C-T		not specified	Uncertain significance (Apr 03, 2023)
6-75312955-G-T		not specified	Uncertain significance (Aug 10, 2021)
6-75313167-G-A		Neuromuscular disorder, congenital, with dysmorphic facies	Pathogenic (Apr 03, 2024)
6-75313316-C-T		not specified	Uncertain significance (Oct 12, 2022)
6-75313359-G-A		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP