Variant (rsID / SNP)

rs183706407

rs183706407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHIT1. Location: chromosome 1, position 203,192,681. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHIT1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:203192681
Cytoband: 1q32.1
HGVS: NM_003465.3(CHIT1):c.422A>C (p.Tyr141Ser)
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.