B4GAT1-DT

Gene

B4GAT1 divergent transcript, the group of Divergent transcripts

Gene summary

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

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 1.15

Max pathogenic AF

—

Genomic locus

chr11:66,347,845-66,364,804

External References & Databases

Ensembl (ENSG00000255468)

NCBI Gene (102724064)

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 B4GAT1-DT variants in ClinVar

1 Conditions Cataloged

Inborn genetic diseasesTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

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.

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000531602
Coding exons: 1
Length: 16855
Individuals with no LoFs: 111023
Homozygous LoFs: 4
Heterozygous LoFs: 1577
Defined: 112604
p: 0.00705

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.831	42	60.1	0.698	0.00000347	649
Missense (PolyPhen)
Synonymous	0.801	24	29.5	0.813	0.00000221	219
Loss of Function	-0.187	2	1.73	1.15	7.28e-8	24

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.0043	0.0043	notable
Ashkenazi Jewish	0.014	0.014	notable
East Asian	0.000061	0.000061	rare
Finnish	0.0033	0.0033	notable
European (Non-Finnish)	0.010	0.010	notable
South Asian	0.0060	0.0059	notable
Other	0.0080	0.0080	notable