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Variant (rsID / SNP)

rs143205045

GNPAT

rs143205045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPAT. Location: chromosome 1, position 231,403,582. 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
1:231403582
Cytoband
1q42.2
HGVS
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)
Allele change
Synonymous_A404A

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata|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.