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Variant (rsID / SNP)

rs267606949

PHGDH

rs267606949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHGDH. Location: chromosome 1, position 120,269,520. 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
1:120269520
Cytoband
1p12
HGVS
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)
Allele change
Missense_R135W

Associated conditions / phenotypes

PHGDH deficiency|Neu-Laxova syndrome 1|PHGDH deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.