LRRC71

Gene

leucine rich repeat containing 71

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C1orf92

MANE transcript

NM_144702.3

Inheritance

—

ClinVar variants

U:86B:4

Top phenotype

Primary ciliary dyskinesia

gnomAD constraint

pLI —, LoF o/e 0.5

Max pathogenic AF

—

Genomic locus

chr1:156,920,632-156,933,094

External References & Databases

Ensembl (ENSG00000160838)

Transcript & Mutation Effects

hg38 • Region Span ~12.5 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 LRRC71 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

Primary ciliary dyskinesiaTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144702.3. 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
missense			81 clinvar	4 clinvar		85
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	86	4	0	90

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144702.3	RefSeq	NP_653303.2	15	MANE Select
ENST00000337428.8	Ensembl	ENSP00000336661.7	15	MANE Select
ENST00000883915.1	Ensembl	ENSP00000553974.1	15	Standard
ENST00000883915.2	Ensembl	ENSP00000553974.1	15	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337428
Coding exons: 15
Length: 12445
Individuals with no LoFs: 124611
Homozygous LoFs: 0
Heterozygous LoFs: 55
Defined: 124666
p: 0.000221

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.650	262	293	0.893	0.0000143	3517
Missense (PolyPhen)		76	82.112	0.92556		1041
Synonymous	0.866	115	127	0.902	0.00000656	1109
Loss of Function	2.46	14	28.1	0.498	0.00000143	334

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0010	0.00090	notable
Latino/Admixed American	0.00039	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00014	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00011	0.000098	rare
Other	0.00019	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.04
RVIS percentile EVS: 91.29

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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