Variant (rsID / SNP)
rs77261230
rs77261230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX14. Location: chromosome 1, position 10,659,333. Clinical significance in the table: Benign.
Reference-table entries
PEX14Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:10659333
- Cytoband
- 1p36.22
- HGVS
- NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
- Allele change
- Missense_S70A
Associated conditions / phenotypes
Peroxisome biogenesis disorder 13A (Zellweger)|Peroxisome biogenesis disorder, complementation group K
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.