PLBD1-AS1

PLBD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:14567393-14624191

Links

ENSG00000256751 ∙ NCBI:101928290 ∙ ∙ HGNC:51143 ∙ ∙ ∙ 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 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		52	35	13	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)
12-14613124-T-C			Likely benign (Jan 14, 2024)
12-14613138-G-T			Uncertain significance (Jun 28, 2023)
12-14613144-G-C			Likely benign (Feb 28, 2022)
12-14613150-C-T			Likely benign (Mar 09, 2021)
12-14613166-A-G			Uncertain significance (Apr 27, 2023)
12-14613168-A-G			Likely benign (May 05, 2022)
12-14613188-C-T		Inborn genetic diseases	Uncertain significance (May 07, 2024)
12-14613193-C-T			Uncertain significance (Nov 23, 2021)
12-14613194-G-A			Uncertain significance (Jan 25, 2024)
12-14613198-G-C			Likely benign (Aug 09, 2023)
12-14613216-C-G			Benign (Jan 29, 2024)
12-14613238-A-G		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
12-14613243-G-C			Uncertain significance (Dec 22, 2023)
12-14613244-T-G			Uncertain significance (Apr 10, 2022)
12-14613254-T-G		Inborn genetic diseases	Uncertain significance (Mar 22, 2023)
12-14613262-A-C		Inborn genetic diseases	Uncertain significance (May 20, 2024)
12-14613272-G-A			Uncertain significance (Sep 19, 2022)
12-14613277-C-T			Uncertain significance (Jan 25, 2024)
12-14613281-G-A			Uncertain significance (Jan 12, 2024)
12-14613289-T-A			Uncertain significance (Oct 07, 2022)
12-14613290-C-T		Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Uncertain significance (Apr 04, 2024)
12-14613298-A-C			Likely benign (Jan 31, 2023)
12-14613303-G-T			Likely benign (Jan 13, 2024)
12-14613305-G-A			Likely benign (Jul 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP