CRPPA-AS1

CRPPA antisense RNA 1, the group of Antisense RNAs

Basic information

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.

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 clinvar		1
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	7 clinvar	2 clinvar	40 clinvar	50 clinvar	9 clinvar	108
Total	7	2	40	51	9

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP