Variant (rsID / SNP)

rs121909152

rs121909152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX7. Location: chromosome 6, position 137,191,043. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PEX7Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:137191043
Cytoband: 6q23.3
HGVS: NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
Allele change: Missense_G217R

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata

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.