Variant (rsID / SNP)

rs121434440

rs121434440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPAT. Location: chromosome 1, position 231,401,101. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNPATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:231401101
Cytoband: 1q42.2
HGVS: NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)
Allele change: Missense_R211C

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.