Variant (rsID / SNP)

rs74315421

rs74315421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPO4. Location: chromosome 20, position 947,907. Clinical significance in the table: Pathogenic.

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Reference-table entries

RSPO4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:947907
Cytoband: 20p13
HGVS: NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)
Allele change: Missense_C107R

Associated conditions / phenotypes

Anonychia

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.