CRPPA-AS1

CRPPA antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:16210474-16270604

Previous symbols: [ "ISPD-AS1" ]

Links

ENSG00000229688 ∙ NCBI:100506025 ∙ ∙ HGNC:48962 ∙ ∙ ∙ 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 CRPPA-AS1 gene.

• not provided (4 variants)
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (2 variants)
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U (2 variants)
• Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRPPA-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	3	41	46	9	106
Total	7	3	41	46	9

Variants in CRPPA-AS1

This is a list of pathogenic ClinVar variants found in the CRPPA-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
7-16215814-C-T			Likely benign (Jun 14, 2018)
7-16215977-A-T			Benign (Jun 14, 2018)
7-16216016-T-C		not specified	Benign (Jul 07, 2018)
7-16216047-A-T		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Likely benign (Dec 05, 2024)
7-16216048-G-A		not specified • Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Benign (Feb 03, 2025)
7-16216049-A-T		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Likely benign (Nov 29, 2021)
7-16216050-T-A		not specified • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Benign/Likely benign (Jan 06, 2025)
7-16216055-A-G		Congenital Muscular Dystrophy, alpha-dystroglycan related • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Conflicting classifications of pathogenicity (Mar 23, 2023)
7-16216059-T-A		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Likely benign (Nov 05, 2024)
7-16216062-C-T		Congenital Muscular Dystrophy, alpha-dystroglycan related	Uncertain significance (Jan 12, 2018)
7-16216064-A-G		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Uncertain significance (Oct 22, 2021)
7-16216071-G-A		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Conflicting classifications of pathogenicity (Jan 15, 2025)
7-16216083-G-C		not specified • Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Uncertain significance (Sep 01, 2022)
7-16216091-T-C		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Uncertain significance (Mar 09, 2022)
7-16216093-T-A		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Uncertain significance (Jul 19, 2022)
7-16216094-A-G		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Uncertain significance (Aug 14, 2024)
7-16216097-A-G		not specified • Congenital Muscular Dystrophy, alpha-dystroglycan related • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Benign/Likely benign (Jan 08, 2025)
7-16216098-A-G		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Likely benign (Apr 25, 2022)
7-16216099-A-C		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Uncertain significance (Sep 02, 2022)
7-16216110-CT-C		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Uncertain significance (Feb 02, 2022)
7-16216114-T-C		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Likely benign (Aug 03, 2023)
7-16216119-C-A		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Pathogenic (Jun 04, 2022)
7-16216123-T-A		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Likely benign (Aug 13, 2024)
7-16216123-T-G		Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Likely benign (Apr 14, 2021)
7-16216125-C-T		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U	Uncertain significance (Jul 12, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP