HGH1
protein-codingHGH1 homolog, the group of Armadillo like helical domain containing
Gene summary
Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- C8orf30A
- FAM203B
- C8orf30B
- FAM203A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.1 kbGenCC 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 HGH1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016458.4. 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 | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 5 | 5 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 6 | 0 | 0 | 6 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057542.2 | 6 | MANE Select | |
| Ensembl | ENSP00000321320.5 | 6 | MANE Select | |
| Ensembl | ENSP00000431970.1 | 2 | Standard | |
| Ensembl | ENSP00000486087.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
Molecular Function
- molecular_function
Cellular Component
- cellular_component
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000347708
- Coding exons
- 6
- Length
- 3075
- Individuals with no LoFs
- 123103
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 7
- Defined
- 123110
- p
- 0.0000284
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.322 | 34 | 29.1 | 1.17 | 0.00000148 | 2425 |
| Missense (PolyPhen) | 16 | 13.283 | 1.2046 | 717 | ||
| Synonymous | 0.165 | 11 | 11.7 | 0.939 | 6.94e-7 | 889 |
| Loss of Function | 0.515 | 3 | 4.13 | 0.727 | 2.55e-7 | 145 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00011 | 0.000093 | rare |
| European (Non-Finnish) | 0.000036 | 0.000036 | rare |
| South Asian | 0.000034 | 0.000034 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.104
Essentials
- Essential (gene trap)
- N