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LAT2

Synonyms
HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5
External resources
Summary
This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,570
Likely benign
1,485
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LAT2 gene.

Phenotype class
Patients in 3billion (%)

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