LINC02210-CRHR1

LINC02210-CRHR1 readthrough

Basic information

Region (hg38): 17:45620344-45835826

Links

ENSG00000263715 ∙ NCBI:104909134 ∙ ∙ HGNC:51483 ∙ ∙ ∙ 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 LINC02210-CRHR1 gene.

• Inborn genetic diseases (9 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC02210-CRHR1 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					1	1
missense			5		1	6
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	6	1	3

Variants in LINC02210-CRHR1

This is a list of pathogenic ClinVar variants found in the LINC02210-CRHR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-45784567-G-A		not specified	Uncertain significance (May 15, 2024)
17-45807010-G-A		not specified	Uncertain significance (Jan 08, 2024)
17-45807037-G-A		not specified	Likely benign (Aug 23, 2021)
17-45807072-C-A		not specified	Uncertain significance (Sep 26, 2023)
17-45816483-G-A		not specified	Uncertain significance (Jan 09, 2024)
17-45816518-T-C			Benign (Dec 31, 2019)
17-45816520-C-T			Benign (Dec 31, 2019)
17-45816525-C-A		not specified	Uncertain significance (Jun 21, 2022)
17-45821396-G-A		not specified	Uncertain significance (Jun 30, 2022)
17-45821414-G-A		not specified	Uncertain significance (May 12, 2024)
17-45821425-G-A			Likely benign (Jun 25, 2018)
17-45829613-G-T		CRHR1-related disorder	Likely benign (May 22, 2023)
17-45829614-C-A		CRHR1-related disorder	Likely benign (Dec 28, 2022)
17-45830084-G-A			Benign (Dec 31, 2019)
17-45830096-G-A		not specified	Uncertain significance (Oct 30, 2023)
17-45830101-C-T		not specified	Uncertain significance (Jan 08, 2024)
17-45830102-G-A		not specified	Uncertain significance (May 10, 2024)
17-45830157-C-T		not specified	Likely benign (Feb 13, 2024)
17-45830185-A-G		not specified	Uncertain significance (May 17, 2023)
17-45830202-C-G		not specified	Likely benign (Jun 18, 2024)
17-45830209-A-G		not specified	Uncertain significance (Dec 04, 2023)
17-45830212-G-A		not specified	Uncertain significance (Mar 31, 2023)
17-45830440-C-T			Benign (Jan 05, 2018)
17-45830510-A-G		not specified	Likely benign (Apr 24, 2024)
17-45833178-A-G		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for CRH (corticotropin- releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to stress. Plays a role in the response to anxiogenic stimuli. {ECO:0000269|PubMed:18292205, ECO:0000269|PubMed:18801728, ECO:0000269|PubMed:23576434, ECO:0000269|PubMed:23863939}.
• Pathway: Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;CRH;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)