THRB-AS2

THRB antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 3:24137810-24324470

Links

ENSG00000289130 ∙ NCBI:101927854 ∙ ∙ HGNC:54854 ∙ ∙ ∙ 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 THRB-AS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THRB-AS2 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						0
Total	0	0	0	0	0

Variants in THRB-AS2

This is a list of pathogenic ClinVar variants found in the THRB-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-24143502-A-G		Thyroid hormone resistance, generalized, autosomal dominant	Uncertain significance (Aug 15, 2023)
3-24143504-G-A		not specified • Thyroid hormone resistance, generalized, autosomal dominant	Benign (Mar 06, 2018)
3-24143507-T-G			Uncertain significance (Feb 25, 2019)
3-24143511-C-T		Thyroid hormone resistance, generalized, autosomal dominant • Selective pituitary resistance to thyroid hormone;Thyroid hormone resistance, generalized, autosomal recessive;Thyroid hormone resistance, generalized, autosomal dominant • THRB-related disorder	Pathogenic (May 01, 2022)
3-24143512-G-A		Thyroid hormone resistance, generalized, autosomal dominant • THRB-related disorder	Pathogenic (Feb 07, 2024)
3-24143512-G-C		Thyroid hormone resistance, generalized, autosomal dominant	Uncertain significance (Sep 30, 2014)
3-24143538-G-A		THRB-related disorder	Uncertain significance (Jan 25, 2023)
3-24143539-C-G		Thyroid hormone resistance, generalized, autosomal dominant	Uncertain significance (Nov 22, 2016)
3-24143539-C-T		Thyroid hormone resistance, generalized, autosomal dominant • Thyroid hormone resistance syndrome	Pathogenic (Jun 22, 2020)
3-24143542-T-TGGTCGCCACATGGGCTTC		Thyroid hormone resistance, generalized, autosomal dominant • not specified	Uncertain significance (May 03, 2024)
3-24143546-C-T		Thyroid hormone resistance, generalized, autosomal dominant	Uncertain significance (Jan 13, 2018)
3-24143590-C-T		Thyroid hormone resistance, generalized, autosomal dominant	Uncertain significance (Jan 13, 2018)
3-24143591-G-A		Thyroid hormone resistance syndrome	Uncertain significance (Jun 14, 2016)
3-24143604-G-C		Inborn genetic diseases	Uncertain significance (May 18, 2023)
3-24143614-C-G		not specified	Uncertain significance (Nov 02, 2023)
3-24143816-C-T			Benign (Nov 12, 2018)
3-24146667-C-G		not specified	Conflicting classifications of pathogenicity (Apr 03, 2024)
3-24146737-G-T			Uncertain significance (Oct 08, 2023)
3-24146858-A-G		not specified	Benign (Apr 13, 2020)
3-24152410-T-C			Uncertain significance (Jun 01, 2021)
3-24165115-G-C			Likely benign (Jan 01, 2023)
3-24190062-A-G		Thyroid hormone resistance, generalized, autosomal dominant • not specified	Likely benign (Oct 25, 2023)
3-24190073-C-T		Macular dystrophy	Pathogenic (Mar 28, 2023)
3-24190082-T-C		Inborn genetic diseases	Uncertain significance (Oct 04, 2022)
3-24190093-C-T		not specified	Likely benign (Jul 03, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP