PLBD1-AS1

PLBD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:14567393-14624191

Links

ENSG00000256751NCBI:101928290HGNC:51143GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLBD1-AS1 gene.

  • not provided (93 variants)
  • Inborn genetic diseases (7 variants)
  • Congenital diarrhea 6 (2 variants)
  • GUCY2C-related condition (1 variants)
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (1 variants)
  • Meconium ileus (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLBD1-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
2
clinvar
52
clinvar
35
clinvar
13
clinvar
102
Total 2 0 52 35 13

Variants in PLBD1-AS1

This is a list of pathogenic ClinVar variants found in the PLBD1-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
12-14567623-A-G not specified Likely benign (Jan 09, 2024)3214347
12-14567684-C-A not specified Uncertain significance (Jul 09, 2024)3419903
12-14613124-T-C Likely benign (Jan 23, 2025)782874
12-14613138-G-A Likely benign (Aug 01, 2024)3683246
12-14613138-G-T Uncertain significance (Jul 03, 2024)2722012
12-14613144-G-C Likely benign (Feb 28, 2022)2104784
12-14613150-C-T Likely benign (Mar 09, 2021)1539496
12-14613155-G-T Uncertain significance (Jul 23, 2024)3683118
12-14613166-A-G Uncertain significance (Sep 29, 2024)2837770
12-14613168-A-G Likely benign (May 05, 2022)1939953
12-14613188-C-T Inborn genetic diseases Uncertain significance (May 07, 2024)3283170
12-14613193-C-T Uncertain significance (Nov 23, 2021)1391376
12-14613194-G-A Uncertain significance (Dec 13, 2024)1520722
12-14613198-G-C Likely benign (Aug 09, 2023)1585871
12-14613205-T-C Uncertain significance (Feb 02, 2025)3625383
12-14613216-C-G Benign (Jan 07, 2025)735631
12-14613238-A-G Inborn genetic diseases Uncertain significance (Jul 17, 2024)2958018
12-14613243-G-C Uncertain significance (Feb 01, 2024)2890849
12-14613244-T-G Uncertain significance (Apr 10, 2022)1461726
12-14613250-A-G Uncertain significance (Mar 16, 2024)3646390
12-14613254-T-G Inborn genetic diseases Uncertain significance (Mar 22, 2023)2528163
12-14613257-C-A Uncertain significance (Feb 03, 2025)3729959
12-14613262-A-C Inborn genetic diseases Uncertain significance (May 20, 2024)2991256
12-14613272-G-A Uncertain significance (Sep 19, 2022)1020157
12-14613277-C-T Uncertain significance (Nov 25, 2024)2073348

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP