Variant (rsID / SNP)

rs4972450

rs4972450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WIPF1. Location: chromosome 2, position 175,436,940. Clinical significance in the table: Benign.

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Reference-table entries

WIPF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:175436940
Cytoband: 2q31.1
HGVS: NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)
Allele change: Missense_P198L

Associated conditions / phenotypes

Wiskott-Aldrich syndrome 2

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.