Variant (rsID / SNP)

rs148591292

rs148591292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX7. Location: chromosome 6, position 137,219,380. Clinical significance in the table: Pathogenic.

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Reference-table entries

PEX7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:137219380
Cytoband: 6q23.3
HGVS: NM_000288.4(PEX7):c.903+1G>C
Allele change: Silent

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|PEX7-Related Disorders|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.