Variant (rsID / SNP)

rs398122938

rs398122938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZC4H2. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ZC4H2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq11.2
HGVS: NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)
Allele change: Missense_V63L

Associated conditions / phenotypes

Wieacker-Wolff syndrome

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.