Variant (rsID / SNP)

rs114184584

rs114184584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GLCT. Location: chromosome 13, position 31,858,836. Clinical significance in the table: Benign.

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Reference-table entries

B3GLCTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:31858836
Cytoband: 13q12.3
HGVS: NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe)
Allele change: Missense_Y301F

Associated conditions / phenotypes

Peters plus syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.