Variant (rsID / SNP)

rs104893853

rs104893853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSX1. Location: chromosome 4, position 4,864,581. Clinical significance in the table: Pathogenic.

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Reference-table entries

MSX1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:4864581
Cytoband: 4p16.2
HGVS: NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)
Allele change: Nonsense_S208X

Associated conditions / phenotypes

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.