Variant (rsID / SNP)

rs11558492

rs11558492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPAT. Location: chromosome 1, position 231,408,091. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GNPATBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:231408091
Cytoband: 1q42.2
HGVS: NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
Allele change: Missense_D519G

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 2

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.