DYM-AS1

DYM antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:49021705-49048610

Links

ENSG00000264269 ∙ NCBI:100129878 ∙ ∙ HGNC:37046 ∙ ∙ ∙ 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 DYM-AS1 gene.

• not provided (15 variants)
• Dyggve-Melchior-Clausen syndrome (6 variants)
• Smith-McCort dysplasia (5 variants)
• Inborn genetic diseases (3 variants)
• Connective tissue disorder (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYM-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	1	1	9	7	4	22
Total	1	1	9	7	4

Variants in DYM-AS1

This is a list of pathogenic ClinVar variants found in the DYM-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
18-49043932-C-T		Smith-McCort dysplasia • Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)
18-49044033-C-T		Smith-McCort dysplasia • Dyggve-Melchior-Clausen syndrome	Likely benign (Jun 14, 2016)
18-49044043-A-G		Smith-McCort dysplasia • Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)
18-49044058-G-A		not specified	Benign/Likely benign (Dec 22, 2022)
18-49044060-C-T		Connective tissue disorder • Inborn genetic diseases	Uncertain significance (Nov 29, 2021)
18-49044061-G-A			Likely benign (Apr 26, 2023)
18-49044066-C-A		Dyggve-Melchior-Clausen syndrome • Smith-McCort dysplasia	Uncertain significance (Oct 31, 2022)
18-49044101-T-G			Likely benign (Sep 10, 2023)
18-49044108-C-T		Inborn genetic diseases	Uncertain significance (Sep 28, 2022)
18-49044115-T-C			Likely benign (Apr 14, 2023)
18-49044119-T-C			Uncertain significance (Sep 19, 2022)
18-49044122-T-C		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
18-49044122-TAGACA-T			Pathogenic (Nov 01, 2016)
18-49044139-A-G			Likely benign (Feb 22, 2022)
18-49044140-T-C		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
18-49044142-G-T			Likely benign (Jun 22, 2022)
18-49044177-C-T		Dyggve-Melchior-Clausen syndrome • Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)
18-49044186-AT-A		Dyggve-Melchior-Clausen syndrome	Pathogenic/Likely pathogenic (Oct 08, 2023)
18-49044209-A-G		Inborn genetic diseases	Conflicting classifications of pathogenicity (Mar 31, 2023)
18-49044234-C-T			Benign (May 11, 2021)
18-49044292-C-T			Benign (May 11, 2021)
18-49044334-A-G			Benign (Nov 11, 2018)
18-49044502-C-G			Benign (Nov 10, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP