HGH1

HGH1 homolog, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 8:144137774-144140851

Previous symbols: [ "C8orf30A", "FAM203B", "C8orf30B", "FAM203A" ]

Links

ENSG00000235173 ∙ NCBI:51236 ∙ ∙ HGNC:24161 ∙ Uniprot:Q9BTY7 ∙ AlphaFold ∙ 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 HGH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HGH1 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in HGH1

This is a list of pathogenic ClinVar variants found in the HGH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144138566-G-A		not specified	Uncertain significance (Jan 21, 2025)
8-144138733-T-G		not specified	Uncertain significance (Dec 13, 2023)
8-144138784-C-T		not specified	Uncertain significance (Apr 19, 2023)
8-144138798-G-C		not specified	Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HGH1	protein_coding	protein_coding	ENST00000347708	6	3075

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0124	0.667	123103	0	7	123110	0.0000284

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.322	34	29.1	1.17	0.00000148	2425
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000108	0.0000930
European (Non-Finnish)	0.0000361	0.0000359
Middle Eastern	0.00	0.00
South Asian	0.0000344	0.0000344
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.160
• ghis: 0.467

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Hgh1

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function