Variant (rsID / SNP)

rs140228721

rs140228721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHIT1. Location: chromosome 1, position 203,186,979. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHIT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:203186979
Cytoband: 1q32.1
HGVS: NM_003465.3(CHIT1):c.1044G>T (p.Lys348Asn)
Allele change: Silent

Associated conditions / phenotypes

Chitotriosidase 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.