Variant (rsID / SNP)
rs113491328
rs113491328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYCR1. Location: chromosome 17, position 79,893,246. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PYCR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:79893246
- Cytoband
- 17q25.3
- HGVS
- NM_006907.4(PYCR1):c.285C>T (p.Cys95=)
- Allele change
- Synonymous_C95C
Associated conditions / phenotypes
Cutis laxa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.