MIR4713HG

MIR4713 host gene, the group of MicroRNA non-coding host genes

Basic information

Links

ENSG00000259240 ∙ ∙ ∙ HGNC:53124 ∙ ∙ ∙ 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 MIR4713HG gene.

• not provided (282 variants)
• Aromatase deficiency (127 variants)
• Inborn genetic diseases (21 variants)
• not specified (9 variants)
• Aromatase excess syndrome (2 variants)
• Letrozole response (2 variants)
• Aromatase deficiency;Aromatase excess syndrome (2 variants)
• Pulmonary disease, chronic obstructive, susceptibility to (1 variants)
• Premature ovarian failure (1 variants)
• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR4713HG 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	38	11	93	196	50	388
Total	38	11	93	196	50

Highest pathogenic variant AF is 0.0000263

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP