Variant (rsID / SNP)

rs540053239

rs540053239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCYT1A. Location: chromosome 3, position 195,968,858. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCYT1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:195968858
Cytoband: 3q29
HGVS: NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)
Allele change: Missense_R223S

Associated conditions / phenotypes

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

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.