Variant (rsID / SNP)
rs147304638
rs147304638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSPH. Location: chromosome 7, position 56,082,831. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PSPHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:56082831
- Cytoband
- 7p11.2
- HGVS
- NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
- Allele change
- Missense_T152I
Associated conditions / phenotypes
Deficiency of phosphoserine phosphatase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.