TH2LCRR

Gene

T helper type 2 locus control region associated RNA, the group of Long non-coding RNAs with non-systematic symbols

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:2B:1

Top phenotype

Hereditary cancer-predisposing syndrome

Max pathogenic AF

—

Genomic locus

chr5:132,629,735-132,664,272

External References & Databases

Ensembl (ENSG00000223442)

NCBI Gene (101927761)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TH2LCRR variants in ClinVar

3 Conditions Cataloged

Hereditary cancer-predisposing syndromeTotal: 15

Nijmegen breakage syndrome-like disorderTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar	2 clinvar	1 clinvar		4
Total	0	1	2	1	0	4

Highest pathogenic variant AF is 0.0000328727

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP