DSCR9

Down syndrome critical region 9, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 21:37208196-37237353

Links

ENSG00000230366 ∙ NCBI:257203 ∙ ∙ HGNC:16301 ∙ Uniprot:P59020 ∙ AlphaFold ∙ 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 DSCR9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSCR9 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						0
Total	0	0	0	0	0

Variants in DSCR9

This is a list of pathogenic ClinVar variants found in the DSCR9 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-37225609-C-T		not specified	Uncertain significance (Dec 27, 2023)
21-37227657-C-T		not specified	Uncertain significance (Nov 20, 2023)
21-37227707-A-C		not specified	Uncertain significance (Sep 30, 2024)
21-37227731-C-T		not specified	Uncertain significance (Nov 15, 2024)
21-37227750-C-T		not specified	Uncertain significance (Jun 02, 2024)
21-37227762-T-C		not specified	Uncertain significance (Jan 16, 2024)
21-37227785-C-T		not specified	Uncertain significance (Aug 10, 2023)
21-37227806-C-T		not specified	Uncertain significance (Nov 17, 2022)
21-37228237-C-T		not specified	Uncertain significance (May 26, 2022)
21-37228256-C-T		not specified	Uncertain significance (Jan 24, 2023)
21-37228312-G-A		not specified	Uncertain significance (Feb 06, 2024)
21-37228345-C-T		not specified	Uncertain significance (Aug 08, 2022)
21-37232386-G-T		not specified	Uncertain significance (Aug 12, 2024)
21-37232411-G-A		not specified	Uncertain significance (Nov 07, 2022)
21-37232424-G-C		not specified	Uncertain significance (Dec 20, 2023)
21-37233418-G-A		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function