Variant (rsID / SNP)

rs1535692

rs1535692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC6. Location: chromosome 13, position 95,034,749. Clinical significance in the table: Benign.

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Reference-table entries

GPC6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:95034749
Cytoband: 13q31.3
HGVS: NM_005708.5(GPC6):c.1234G>A (p.Val412Met)
Allele change: Missense_V412M

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.