Variant (rsID / SNP)

rs121908168

rs121908168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALX3. Location: chromosome 1, position 110,607,256. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALX3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:110607256
Cytoband: 1p13.3
HGVS: NM_006492.3(ALX3):c.547C>T (p.Arg183Trp)
Allele change: Missense_R183W

Associated conditions / phenotypes

Frontorhiny

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.