DDC-AS1

DDC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:50531759-50543463

Links

ENSG00000226122 ∙ NCBI:100129427 ∙ ∙ HGNC:40171 ∙ ∙ ∙ 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 DDC-AS1 gene.

• Deficiency of aromatic-L-amino-acid decarboxylase (78 variants)
• not provided (10 variants)
• Inborn genetic diseases (4 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDC-AS1 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	3	8	38	34	3	86
Total	3	8	38	34	3

Highest pathogenic variant AF is 0.0000329

Variants in DDC-AS1

This is a list of pathogenic ClinVar variants found in the DDC-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-50537600-C-T			Benign (Mar 26, 2021)
7-50537799-G-A			Likely benign (May 26, 2021)
7-50537841-C-G		Deficiency of aromatic-L-amino-acid decarboxylase	Likely benign (Nov 24, 2023)
7-50537845-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Likely benign (Oct 29, 2023)
7-50537854-C-A		Deficiency of aromatic-L-amino-acid decarboxylase • Inborn genetic diseases • not specified	Uncertain significance (Jan 18, 2024)
7-50537855-C-A		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Sep 27, 2024)
7-50537866-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Likely benign (May 15, 2022)
7-50537867-A-G		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Sep 19, 2022)
7-50537871-C-T		Deficiency of aromatic-L-amino-acid decarboxylase • not specified	Uncertain significance (Jul 22, 2024)
7-50537875-C-G			Uncertain significance (Nov 16, 2015)
7-50537876-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Aug 10, 2023)
7-50537877-C-G		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Feb 10, 2022)
7-50537877-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Jun 19, 2021)
7-50537883-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Jan 13, 2018)
7-50537885-G-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Oct 03, 2023)
7-50537895-T-G		Inborn genetic diseases	Uncertain significance (Apr 08, 2024)
7-50537902-T-C		Deficiency of aromatic-L-amino-acid decarboxylase	Likely benign (Jul 30, 2022)
7-50537904-C-A		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Nov 27, 2023)
7-50537905-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Likely benign (Nov 09, 2021)
7-50537907-T-G		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Nov 28, 2023)
7-50537910-G-A		Deficiency of aromatic-L-amino-acid decarboxylase	Likely pathogenic (Feb 16, 2024)
7-50537916-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Jul 19, 2022)
7-50537920-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Uncertain significance (Sep 07, 2022)
7-50537928-C-G		Deficiency of aromatic-L-amino-acid decarboxylase • not specified	Conflicting classifications of pathogenicity (Aug 27, 2024)
7-50537928-C-T		Deficiency of aromatic-L-amino-acid decarboxylase	Likely pathogenic (Dec 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP