RAP2C-AS1

RAP2C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:132161687-132432862

Links

ENSG00000232160 ∙ NCBI:101928578 ∙ ∙ HGNC:40957 ∙ ∙ ∙ 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 RAP2C-AS1 gene.

• Inborn genetic diseases (6 variants)
• not provided (2 variants)
• MBNL3-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAP2C-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			7	1	1	9
Total	0	0	7	1	1

Variants in RAP2C-AS1

This is a list of pathogenic ClinVar variants found in the RAP2C-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
X-132214186-T-G			Benign (Dec 14, 2018)
X-132214200-C-A		not specified	Uncertain significance (Feb 05, 2024)
X-132214402-A-G			Likely benign (Apr 16, 2018)
X-132217028-C-T		not specified	Uncertain significance (May 20, 2024)
X-132382191-G-A		not specified	Uncertain significance (Jan 18, 2022)
X-132386753-T-C		not specified	Uncertain significance (Feb 27, 2024)
X-132386816-G-T		MBNL3-related disorder	Likely benign (Jun 24, 2019)
X-132390944-G-A		not specified	Uncertain significance (Jul 25, 2023)
X-132390960-T-C		not specified	Uncertain significance (Dec 21, 2022)
X-132391091-C-T			Benign (Dec 31, 2019)
X-132392322-T-C			Likely benign (Dec 01, 2022)
X-132392325-G-C		not specified	Uncertain significance (Sep 12, 2023)
X-132406245-C-T		not specified	Uncertain significance (Nov 22, 2022)
X-132406269-G-T		MBNL3-related disorder	Uncertain significance (Nov 22, 2022)
X-132406356-G-A		not specified	Uncertain significance (Jul 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP