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Variant (rsID / SNP)

rs142283145

GNPAT

rs142283145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPAT. Location: chromosome 1, position 231,401,099. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GNPATConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:231401099
Cytoband
1q42.2
HGVS
NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln)
Allele change
Missense_R210Q

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.