B3GNTL1

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			39 clinvar	2 clinvar		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	3	1	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
O-linked glycosylation of mucins
O-linked glycosylation

Molecular Function

transferase activity, transferring glycosyl groups

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000320865
Coding exons: 12
Length: 109656
Individuals with no LoFs: 125559
Homozygous LoFs: 0
Heterozygous LoFs: 189
Defined: 125748
p: 0.000752

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0166	230	229	1.00	0.0000155	2331
Missense (PolyPhen)		68	66.304	1.0256		678
Synonymous	-1.50	110	91.7	1.20	0.00000686	679
Loss of Function	-1.80	36	26.1	1.38	0.00000156	246

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0038	0.0038	notable
Latino/Admixed American	0.00031	0.00029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0031	0.0031	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00035	0.00034	rare
South Asian	0.00053	0.00052	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative glycosyltransferase. {ECO:0000305}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.851
RVIS EVS: 0.11
RVIS percentile EVS: 62.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.485

Gene Damage Prediction

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