Variant (rsID / SNP)

rs151339003

rs151339003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FZD6. Location: chromosome 8, position 104,340,634. Clinical significance in the table: Pathogenic.

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Reference-table entries

FZD6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:104340634
Cytoband: 8q22.3
HGVS: NM_003506.4(FZD6):c.1531C>T (p.Arg511Cys)
Allele change: Missense_R511C

Associated conditions / phenotypes

Nonsyndromic congenital nail disorder 1|Nail disease

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.