Variant (rsID / SNP)

rs104894866

rs104894866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MID1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MID1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_000381.4(MID1):c.884T>C (p.Leu295Pro)
Allele change: Missense_L295P

Associated conditions / phenotypes

X-linked Opitz G/BBB 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.