Variant (rsID / SNP)

rs139063843

rs139063843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHGDH. Location: chromosome 1, position 120,277,956. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PHGDHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:120277956
Cytoband: 1p12
HGVS: NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
Allele change: Missense_G228W

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.