ERICH3

protein-coding

glutamate rich 3

Gene summary

Involved in cilium assembly. Located in axoneme and non-motile cilium. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C1orf173

MANE transcript

NM_001002912.5

Inheritance

—

ClinVar variants

U:218B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.1

Max pathogenic AF

—

Genomic locus

chr1:74,568,117-74,673,792

External References & Databases

Ensembl (ENSG00000178965)

Transcript & Mutation Effects

hg38 • Region Span ~105.7 kb

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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 ERICH3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 231

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001002912.5. 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			1 clinvar		1 clinvar	2
missense			217 clinvar	16 clinvar		233
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	218	16	1	235

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001002912.5	RefSeq	NP_001002912.4	14	MANE Select
ENST00000326665.10	Ensembl	ENSP00000322609.5	14	MANE Select
ENST00000420661.6	Ensembl	ENSP00000398581.2	7	Standard
ENST00000479666.1	Ensembl	ENSP00000473404.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000326665
Coding exons: 14
Length: 105628
Individuals with no LoFs: 125538
Homozygous LoFs: 1
Heterozygous LoFs: 209
Defined: 125748
p: 0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.07	935	773	1.21	0.0000391	9991
Missense (PolyPhen)		161	148.44	1.0846		2135
Synonymous	-1.14	311	287	1.09	0.0000154	2940
Loss of Function	-0.665	61	55.6	1.10	0.00000288	824

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.0018	0.0017	notable
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00072	0.00071	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00079	0.00078	rare
South Asian	0.00076	0.00075	rare
Other	0.0015	0.0015	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.04
RVIS percentile EVS: 97.75

Essentials

Essential (gene trap): N