Variant (rsID / SNP)

rs104894901

rs104894901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSDHL. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NSDHLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
Allele change: Missense_G205S

Associated conditions / phenotypes

Child 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.