NAPA-AS1

NAPA antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:47484282-47502399

Links

ENSG00000268061NCBI:100505681HGNC:44118GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NAPA-AS1 gene.

  • Inborn genetic diseases (8 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAPA-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
8
clinvar
1
clinvar
9
Total 0 0 8 1 0

Variants in NAPA-AS1

This is a list of pathogenic ClinVar variants found in the NAPA-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
19-47488299-C-T not specified Uncertain significance (Mar 06, 2025)3877618
19-47488343-G-A not specified Uncertain significance (Oct 04, 2024)3402649
19-47488364-C-T not specified Uncertain significance (Dec 09, 2023)3175122
19-47490808-G-A not specified Uncertain significance (Jan 03, 2024)3175121
19-47490820-A-G not specified Uncertain significance (Dec 13, 2022)2223276
19-47492052-G-C not specified Uncertain significance (Dec 10, 2024)3402650
19-47492063-G-T not specified Uncertain significance (May 27, 2022)2227305
19-47492073-T-C not specified Uncertain significance (Jul 20, 2021)2238372
19-47492077-C-T not specified Uncertain significance (Mar 03, 2025)3877619
19-47492089-G-A not specified Uncertain significance (Nov 16, 2024)3402647
19-47492098-T-G not specified Uncertain significance (Aug 08, 2022)2305453
19-47492101-C-T not specified Uncertain significance (Jan 29, 2025)3877617
19-47493008-C-T not specified Uncertain significance (Aug 04, 2023)2616376
19-47493448-T-G not specified Uncertain significance (Aug 28, 2024)3402645
19-47493465-T-C not specified Uncertain significance (Sep 22, 2023)3175115
19-47493489-C-T not specified Uncertain significance (Oct 03, 2024)3402648
19-47495551-A-G not specified Uncertain significance (Dec 20, 2023)3175112
19-47495560-T-C not specified Uncertain significance (Oct 17, 2023)3175109
19-47495570-T-C not specified Uncertain significance (Dec 19, 2022)2337614
19-47500642-C-T not specified Uncertain significance (Jul 27, 2024)3402646
19-47500657-C-T not specified Uncertain significance (Dec 20, 2023)3175101
19-47500667-G-A Likely benign (Mar 01, 2023)2650155
19-47500726-C-A not specified Uncertain significance (Apr 20, 2023)2539671
19-47500738-C-T not specified Uncertain significance (Dec 06, 2022)2333696

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP