LRRC36

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	2 clinvar		3
missense			87 clinvar	2 clinvar		89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	4	0	92

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018296.6	RefSeq	NP_060766.5	14	MANE Select
ENST00000329956.11	Ensembl	ENSP00000329943.6	14	MANE Select
NM_001161575.2	RefSeq	NP_001155047.1	11	Standard
ENST00000435835.3	Ensembl	ENSP00000411122.3	9	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329956
Coding exons: 14
Length: 58406
Individuals with no LoFs: 125592
Homozygous LoFs: 0
Heterozygous LoFs: 156
Defined: 125748
p: 0.000620

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.15	321	384	0.835	0.0000191	4878
Missense (PolyPhen)		98	127.12	0.77091		1807
Synonymous	1.25	139	159	0.874	0.00000834	1518
Loss of Function	1.87	23	34.9	0.658	0.00000181	453

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00055	rare
Latino/Admixed American	0.00053	0.00052	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0023	0.0023	notable
Finnish	0.00032	0.00032	rare
European (Non-Finnish)	0.00049	0.00048	rare
South Asian	0.00077	0.00075	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.960
RVIS EVS: 0.31
RVIS percentile EVS: 72.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0697

Gene Damage Prediction

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