CRPPA-AS1
CRPPA antisense RNA 1, the group of Antisense RNAs
Basic information
Region (hg38): 7:16210474-16270604
Previous symbols: [ "ISPD-AS1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U (60 variants)
- not provided (49 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 (18 variants)
- Congenital Muscular Dystrophy, alpha-dystroglycan related (11 variants)
- not specified (10 variants)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 (3 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2U (1 variants)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 (1 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) | 1 | |||||
| splice region | 0 | |||||
| non coding | 40 | 50 | 108 | |||
| Total | 7 | 2 | 40 | 51 | 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 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Likely benign (Sep 27, 2022) | ||
| 7-16216048-G-A | not specified • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Benign (Jan 25, 2024) | ||
| 7-16216049-A-T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Likely benign (Nov 29, 2021) | ||
| 7-16216050-T-A | Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 • not specified | Benign/Likely benign (Dec 19, 2023) | ||
| 7-16216055-A-G | Congenital Muscular Dystrophy, alpha-dystroglycan related • Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 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 (Jul 24, 2022) | ||
| 7-16216062-C-T | Congenital Muscular Dystrophy, alpha-dystroglycan related | Uncertain significance (Jan 12, 2018) | ||
| 7-16216064-A-G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Uncertain significance (Oct 22, 2021) | ||
| 7-16216071-G-A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Conflicting classifications of pathogenicity (Dec 18, 2023) | ||
| 7-16216083-G-C | not specified • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Uncertain significance (Sep 01, 2022) | ||
| 7-16216091-T-C | Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | Uncertain significance (Mar 09, 2022) | ||
| 7-16216093-T-A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Uncertain significance (Jul 19, 2022) | ||
| 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 25, 2024) | ||
| 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 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | 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 | Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | Pathogenic (Jun 04, 2022) | ||
| 7-16216123-T-A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | Likely benign (Aug 24, 2023) | ||
| 7-16216123-T-G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Autosomal recessive limb-girdle muscular dystrophy type 2U | 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) | ||
| 7-16216131-C-A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | Pathogenic (Nov 05, 2019) |
GnomAD
Source:
dbNSFP
Source: