Variant (rsID / SNP)
rs376607329
rs376607329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,910,785. Clinical significance in the table: Pathogenic.
Reference-table entries
PTPN11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112910785
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
- Allele change
- Missense_R265Q
Associated conditions / phenotypes
Noonan syndrome|Noonan syndrome 1|RASopathy|Inborn genetic diseases|PTPN11-related disorder|Metachondromatosis|LEOPARD syndrome 1|LEOPARD syndrome 1|Noonan syndrome 1|Juvenile myelomonocytic leukemia|Metachondromatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.