GDF5-AS1

ncRNA

GDF5 antisense RNA 1, the group of Antisense RNAs

Gene summary

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GDF5OS

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Grebe syndrome

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr20:35,433,029-35,435,450

External References & Databases

Ensembl (ENSG00000204183)

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 GDF5-AS1 variants in ClinVar

15 Conditions Cataloged

not providedTotal: 90

Grebe syndromeTotal: 24

Acromesomelic dysplasia 2BTotal: 22

Multiple synostoses syndrome 2Total: 22

Acromesomelic dysplasia 2C, Hunter-Thompson typeTotal: 20

BrachydactylyTotal: 19

not specifiedTotal: 7

Inborn genetic diseasesTotal: 7

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 0.000013142

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.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374375
Coding exons: 1
Length: 2422
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125725
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.814	136	165	0.822	0.0000124	1555
Missense (PolyPhen)		4	6.1774	0.64753		57
Synonymous	-0.962	88	77.2	1.14	0.00000543	568
Loss of Function	1.06	5	8.30	0.602	6.26e-7	74

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000070	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium