DDHD1-DT

DDHD1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 14:53152282-53883750

Links

ENSG00000258731 ∙ NCBI:101927620 ∙ ∙ HGNC:55441 ∙ ∙ ∙ 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 DDHD1-DT gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDHD1-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					2	2
Total	0	0	0	0	2

Variants in DDHD1-DT

This is a list of pathogenic ClinVar variants found in the DDHD1-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
14-53152283-C-T		Hereditary spastic paraplegia 28	Likely benign (Apr 06, 2023)
14-53152287-C-A		Hereditary spastic paraplegia 28	Uncertain significance (Sep 01, 2021)
14-53152287-C-T		Hereditary spastic paraplegia 28	Uncertain significance (Mar 22, 2023)
14-53152288-C-T			Uncertain significance (Dec 23, 2021)
14-53152292-G-C			Likely benign (Oct 01, 2024)
14-53152334-C-A		Hereditary spastic paraplegia 28	Uncertain significance (Dec 07, 2022)
14-53152335-T-C		Hereditary spastic paraplegia 28	Uncertain significance (Jan 24, 2024)
14-53152343-C-T		Hereditary spastic paraplegia 28	Likely benign (Nov 01, 2023)
14-53152348-G-A		Hereditary spastic paraplegia 28	Uncertain significance (Jan 08, 2024)
14-53152354-C-G		Hereditary spastic paraplegia 28	Uncertain significance (Feb 23, 2022)
14-53152356-A-G			Uncertain significance (Oct 27, 2019)
14-53152366-C-T		Hereditary spastic paraplegia 28	Likely benign (Dec 19, 2023)
14-53152367-GT-G		Hereditary spastic paraplegia 28	Pathogenic (Dec 06, 2023)
14-53152369-G-A		Hereditary spastic paraplegia 28	Uncertain significance (Jan 17, 2022)
14-53152370-C-T		Hereditary spastic paraplegia 28	Likely benign (Dec 15, 2022)
14-53152376-C-T		Hereditary spastic paraplegia 28	Likely benign (Dec 12, 2023)
14-53152378-T-G		Hereditary spastic paraplegia 28	Uncertain significance (Feb 28, 2022)
14-53152381-T-C		Hereditary spastic paraplegia 28	Uncertain significance (May 14, 2020)
14-53152383-T-C		Hereditary spastic paraplegia 28	Uncertain significance (Jul 12, 2022)
14-53152392-C-A		Inborn genetic diseases	Uncertain significance (Jun 30, 2023)
14-53152399-C-A		Hereditary spastic paraplegia 28	Uncertain significance (Nov 01, 2021)
14-53152410-T-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2023)
14-53152410-TC-AT		Hereditary spastic paraplegia 28	Uncertain significance (May 30, 2022)
14-53152411-C-A		Hereditary spastic paraplegia 28	Uncertain significance (Dec 13, 2019)
14-53152411-C-T		Inborn genetic diseases	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP