Variant (rsID / SNP)

rs146785675

rs146785675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SI. Location: chromosome 3, position 164,741,534. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:164741534
Cytoband: 3q26.1
HGVS: NM_001041.4(SI):c.2923T>C (p.Tyr975His)
Allele change: Missense_Y975H

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.