Variant (rsID / SNP)

rs386833833

rs386833833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCT. Location: chromosome 2, position 136,564,784. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LCTLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:136564784
Cytoband: 2q21.3
HGVS: NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)
Allele change: Missense_G1363S

Associated conditions / phenotypes

Congenital lactase deficiency

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.