RCCD1-AS1

RCCD1 and UNC45A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:90952239-90955225

Links

ENSG00000258384 ∙ NCBI:116435297 ∙ ∙ HGNC:54811 ∙ ∙ ∙ 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 RCCD1-AS1 gene.

• not provided (60 variants)
• Inborn genetic diseases (8 variants)
• - (2 variants)
• Osteootohepatoenteric syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RCCD1-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		34	30	2	67
Total	1	0	34	30	2

Variants in RCCD1-AS1

This is a list of pathogenic ClinVar variants found in the RCCD1-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
15-90952911-C-T			Likely benign (Sep 13, 2022)
15-90952921-C-T			Likely benign (Nov 21, 2023)
15-90952923-C-G			Likely benign (Jul 19, 2022)
15-90952953-T-A			Likely benign (May 16, 2023)
15-90952954-G-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
15-90952967-A-T			Uncertain significance (Jun 20, 2023)
15-90952994-T-C			Uncertain significance (Sep 07, 2022)
15-90952999-C-T		Inborn genetic diseases	Uncertain significance (Oct 13, 2023)
15-90953001-C-T			Likely benign (Jan 30, 2023)
15-90953002-C-T			Uncertain significance (Jun 09, 2023)
15-90953003-G-A			Uncertain significance (Oct 25, 2022)
15-90953012-C-T			Benign (Jan 31, 2024)
15-90953013-G-A		UNC45A-related disorder	Benign (Jan 29, 2024)
15-90953020-A-G		Inborn genetic diseases	Uncertain significance (Mar 13, 2023)
15-90953052-G-C			Uncertain significance (May 20, 2021)
15-90953057-G-C			Likely benign (Oct 17, 2024)
15-90953059-C-G			Likely benign (Aug 05, 2024)
15-90953065-G-C			Likely benign (Dec 24, 2024)
15-90953137-C-T			Likely benign (Dec 07, 2022)
15-90953142-C-T			Likely benign (Nov 29, 2021)
15-90953148-G-C			Likely benign (Jan 16, 2023)
15-90953156-T-C		Inborn genetic diseases	Uncertain significance (May 21, 2024)
15-90953157-G-C			Likely benign (Dec 22, 2023)
15-90953169-C-T			Likely benign (Jan 18, 2024)
15-90953188-C-T			Uncertain significance (Aug 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP