PAX8-AS1

PAX8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:113211421-113276581

Links

ENSG00000189223 ∙ NCBI:654433 ∙ ∙ HGNC:49271 ∙ ∙ ∙ 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 PAX8-AS1 gene.

• Hypothyroidism, congenital, nongoitrous, 2 (112 variants)
• not provided (84 variants)
• Inborn genetic diseases (20 variants)
• not specified (11 variants)
• Congenital hypothyroidism (4 variants)
• PAX8-related condition (1 variants)
• PAX8 POLYMORPHISM (1 variants)
• Obesity;Immunodeficiency;Protruding tongue;Severe T-cell immunodeficiency;Hypothyroidism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAX8-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	1	2
splice region						0
non coding	12	6	94	37	41	190
Total	12	6	94	38	42

Highest pathogenic variant AF is 0.0000131

Variants in PAX8-AS1

This is a list of pathogenic ClinVar variants found in the PAX8-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
2-113216006-T-C		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216016-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216028-T-TTA		Congenital hypothyroidism	Uncertain significance (Jun 14, 2016)
2-113216055-G-A		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 12, 2018)
2-113216058-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216124-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216165-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216207-T-C		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216213-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216221-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216224-T-C		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 12, 2018)
2-113216257-C-T		Hypothyroidism, congenital, nongoitrous, 2	Conflicting classifications of pathogenicity (Jul 01, 2022)
2-113216302-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Mar 16, 2018)
2-113216340-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216341-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216387-T-C		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)
2-113216489-C-G		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216500-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113216556-A-G		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216591-G-A		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216619-G-C		Hypothyroidism, congenital, nongoitrous, 2	Benign (Jan 13, 2018)
2-113216726-G-C		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 12, 2018)
2-113216768-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113217043-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)
2-113217076-C-T		Hypothyroidism, congenital, nongoitrous, 2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP