Variant (rsID / SNP)

rs34638481

rs34638481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GLCT. Location: chromosome 13, position 31,891,743. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

B3GLCTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:31891743
Cytoband: 13q12.3
HGVS: NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser)
Allele change: Missense_G369S

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.