PUS1-AS1

PUS1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:131924277-131929646

Links

ENSG00000255992 ∙ NCBI:107984455 ∙ ∙ HGNC:40706 ∙ ∙ ∙ 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 PUS1-AS1 gene.

• not provided (5 variants)
• Myopathy, lactic acidosis, and sideroblastic anemia 1 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PUS1-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			3	1	4	8
Total	0	0	3	1	4

Variants in PUS1-AS1

This is a list of pathogenic ClinVar variants found in the PUS1-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
12-131929053-A-C			Benign (Jun 14, 2018)
12-131929142-G-A			Benign (Jun 14, 2018)
12-131929165-C-G			Benign (Jun 14, 2018)
12-131929174-C-T			Benign (Jun 23, 2018)
12-131929189-T-G			Likely benign (Jun 14, 2018)
12-131929266-G-C		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929270-C-T		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 12, 2018)
12-131929299-C-T		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929436-G-C		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929457-G-C		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929477-G-A		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 12, 2018)
12-131929479-G-C		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929541-C-T		Myopathy, lactic acidosis, and sideroblastic anemia 1	Benign (Jun 14, 2018)
12-131929572-G-A		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)
12-131929643-G-A		Myopathy, lactic acidosis, and sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP