Variant (rsID / SNP)

rs77546399

rs77546399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SI. Location: chromosome 3, position 164,777,793. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:164777793
Cytoband: 3q26.1
HGVS: NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
Allele change: Missense_P348L

Associated conditions / phenotypes

Sucrase-isomaltase 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.