Variant (rsID / SNP)

rs587777194

rs587777194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCYT1A. Location: chromosome 3, position 195,974,339. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCYT1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:195974339
Cytoband: 3q29
HGVS: NM_001312673.2(PCYT1A):c.385G>A (p.Glu129Lys)
Allele change: Missense_E129K

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.