MIR4713HG

Gene

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

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

—

Top phenotype

Aromatase deficiency

Max pathogenic AF

—

Genomic locus

chr15:51,037,174-51,322,480

External References & Databases

Ensembl (ENSG00000259240)

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 MIR4713HG variants in ClinVar

10 Conditions Cataloged

not providedTotal: 282

Aromatase deficiencyTotal: 127

Inborn genetic diseasesTotal: 21

not specifiedTotal: 9

Aromatase excess syndromeTotal: 2

Letrozole responseTotal: 2

Aromatase deficiency;Aromatase excess syndromeTotal: 2

Pulmonary disease, chronic obstructive, susceptibility toTotal: 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Highest pathogenic variant AF is 0.0000262919

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