ARMH1

armadillo like helical domain containing 1, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 1:44674692-44725591

Previous symbols: [ "NCRNA00082", "C1orf228" ]

Links

ENSG00000198520 ∙ NCBI:339541 ∙ ∙ HGNC:34345 ∙ Uniprot:Q6PIY5 ∙ 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 ARMH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMH1 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					1	1
missense			4	1	1	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	5	1	2

Variants in ARMH1

This is a list of pathogenic ClinVar variants found in the ARMH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-44701011-C-T			Benign (Aug 28, 2018)
1-44701045-G-C			Likely benign (Feb 01, 2023)
1-44701054-G-A		not specified	Uncertain significance (Nov 12, 2021)
1-44721787-G-T		RNU5F-1-associated neurodevelopmental disorder	Uncertain significance (Oct 09, 2024)
1-44721823-A-T			Uncertain significance (Mar 05, 2005)
1-44721855-T-G			Uncertain significance (Mar 05, 2005)
1-44724145-G-A			Benign (Dec 26, 2018)
1-44724154-G-C		not specified	Uncertain significance (Sep 16, 2021)
1-44724384-G-C		not specified	Uncertain significance (Jul 06, 2021)
1-44725164-T-C		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMH1	protein_coding	protein_coding	ENST00000458657	11	50900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000165	0.970	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	177	244	0.725	0.0000147	2853
Missense in Polyphen		72	84.601	0.85105		1090
Synonymous	2.01	79	105	0.750	0.00000722	856
Loss of Function	1.97	11	20.7	0.532	0.00000106	260

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	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.59
• rvis_percentile_EVS: 82.45

Mouse Genome Informatics

• Gene name: Armh1