Variant (rsID / SNP)

rs121907988

rs121907988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHGDH. Location: chromosome 1, position 120,285,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PHGDHConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:120285493
Cytoband: 1p12
HGVS: NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
Allele change: Missense_V425M

Associated conditions / phenotypes

PHGDH deficiency|Neu-Laxova syndrome 1

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.