LRRC37A3

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				3 clinvar	3 clinvar	6
missense			184 clinvar	22 clinvar	2 clinvar	208
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	187	25	5	217

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_199340.5	RefSeq	NP_955372.2	12	MANE Select
ENST00000584306.6	Ensembl	ENSP00000464535.1	12	MANE Select
NM_001303255.3	RefSeq	NP_001290184.1	10	Standard
ENST00000319651.10	Ensembl	ENSP00000325713.5	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000584306
Coding exons: 12
Length: 65169
Individuals with no LoFs: 125656
Homozygous LoFs: 0
Heterozygous LoFs: 86
Defined: 125742
p: 0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.120	555	547	1.01	0.0000298	10422
Missense (PolyPhen)		79	90.508	0.87285		2026
Synonymous	-0.404	233	225	1.03	0.0000139	3324
Loss of Function	2.27	21	35.7	0.589	0.00000170	726

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00094	0.00092	rare
Latino/Admixed American	0.00029	0.00026	rare
Ashkenazi Jewish	0.00022	0.00020	rare
East Asian	0.000055	0.000054	rare
Finnish	0.00096	0.00092	rare
European (Non-Finnish)	0.00031	0.00028	rare
South Asian	0.00027	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.172

Gene Damage Prediction

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