Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs370837823

GNPAT

rs370837823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPAT. Location: chromosome 1, position 231,406,677. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GNPATConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:231406677
Cytoband
1q42.2
HGVS
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=)
Allele change
Synonymous_L485L

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.