Variant (rsID / SNP)

rs200925249

rs200925249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC6. Location: chromosome 13, position 93,879,719. Clinical significance in the table: Likely benign.

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Reference-table entries

GPC6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:93879719
Cytoband: 13q31.3
HGVS: NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)
Allele change: Missense_W4R

Associated conditions / phenotypes

Autosomal recessive omodysplasia

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.