Variant (rsID / SNP)

rs104893854

rs104893854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSX1. Location: chromosome 4, position 4,862,084. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MSX1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:4862084
Cytoband: 4p16.2
HGVS: NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)
Allele change: Missense_P153Q

Associated conditions / phenotypes

Orofacial cleft 5|Hypoplastic enamel-onycholysis-hypohidrosis 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.