DDX19A-DT

DDX19A divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:70315442-70346814

Links

ENSG00000261777 ∙ NCBI:100506083 ∙ ∙ HGNC:55349 ∙ ∙ ∙ 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 DDX19A-DT gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDX19A-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			10	1		11
Total	0	0	10	1	0

Variants in DDX19A-DT

This is a list of pathogenic ClinVar variants found in the DDX19A-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
16-70317539-C-T		not specified	Uncertain significance (Feb 07, 2023)
16-70317554-C-A		not specified	Uncertain significance (Dec 03, 2024)
16-70324585-C-G		not specified	Likely benign (May 23, 2023)
16-70324659-A-G		not specified	Uncertain significance (Feb 12, 2024)
16-70325638-G-A		not specified	Uncertain significance (Dec 19, 2023)
16-70325661-C-G		not specified	Uncertain significance (Feb 07, 2023)
16-70325665-C-T		not specified	Uncertain significance (Aug 05, 2024)
16-70329294-G-A		not specified	Uncertain significance (Apr 04, 2024)
16-70329381-C-A		not specified	Uncertain significance (Nov 10, 2022)
16-70329944-A-T		not specified	Uncertain significance (Jun 22, 2024)
16-70329995-G-A		not specified	Uncertain significance (Aug 13, 2021)
16-70330030-G-A		not specified	Uncertain significance (Jun 06, 2023)
16-70331782-C-G		not specified	Uncertain significance (Dec 07, 2024)
16-70331789-G-A		not specified	Uncertain significance (May 24, 2023)
16-70331837-G-A		not specified	Uncertain significance (Aug 08, 2022)
16-70331846-A-G		not specified	Uncertain significance (Feb 23, 2023)
16-70331849-A-G		not specified	Uncertain significance (Apr 07, 2023)
16-70332979-G-A		not specified	Uncertain significance (Feb 10, 2022)
16-70333031-A-G		not specified	Uncertain significance (Jan 23, 2024)
16-70333558-C-A		not specified	Uncertain significance (Dec 30, 2023)
16-70333562-A-G		not specified	Uncertain significance (Apr 06, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP