ARL14EP-DT

ARL14EP divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:30044053-30323033

Links

ENSG00000254532 ∙ NCBI:105376607 ∙ ∙ HGNC:55517 ∙ ∙ ∙ 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 ARL14EP-DT gene.

• Hypogonadotropic hypogonadism 24 without anosmia (31 variants)
• not provided (14 variants)
• Inborn genetic diseases (3 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL14EP-DT 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	2	22	7	8	42
Total	3	2	22	7	8

Highest pathogenic variant AF is 0.0000131

Variants in ARL14EP-DT

This is a list of pathogenic ClinVar variants found in the ARL14EP-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
11-30230805-G-T		Hypogonadotropic hypogonadism 24 without anosmia	association (-)
11-30231020-C-G		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)
11-30231050-T-C		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 13, 2018)
11-30231642-T-G			Benign (Nov 11, 2018)
11-30231771-A-T			Benign (Mar 11, 2021)
11-30231908-G-A			Likely benign (Jul 20, 2018)
11-30231932-C-G		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)
11-30231952-G-A		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
11-30231961-G-T		Hypogonadotropic hypogonadism 24 without anosmia • FSHB-related disorder	Conflicting classifications of pathogenicity (Jan 12, 2024)
11-30231985-T-C		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Nov 02, 2023)
11-30232009-G-A		Inborn genetic diseases	Uncertain significance (Sep 30, 2021)
11-30232010-T-C			Likely benign (Jul 04, 2018)
11-30232033-C-G			Likely benign (Oct 24, 2018)
11-30232049-C-T			Likely benign (Dec 10, 2021)
11-30232094-T-C			Benign (Nov 11, 2018)
11-30233594-A-T			Uncertain significance (Aug 31, 2021)
11-30233615-T-G		Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)
11-30233638-C-T		not specified • Hypogonadotropic hypogonadism 24 without anosmia	Benign (Jan 31, 2024)
11-30233644-AGT-A		Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic/Likely pathogenic (Jun 03, 2019)
11-30233647-G-A			Likely benign (Nov 20, 2022)
11-30233655-C-T		Hypogonadotropic hypogonadism 24 without anosmia	Uncertain significance (Jan 12, 2018)
11-30233692-C-A		Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)
11-30233697-T-C		Inborn genetic diseases	Uncertain significance (Oct 26, 2022)
11-30233708-T-C		Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic (Nov 25, 2010)
11-30233722-G-A		Hypogonadotropic hypogonadism 24 without anosmia	Conflicting classifications of pathogenicity (Aug 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP