Variant (rsID / SNP)
rs148176616
rs148176616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,940,006. Clinical significance in the table: Benign.
Reference-table entries
PTPN11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112940006
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
- Allele change
- Missense_T553M
Associated conditions / phenotypes
RASopathy|Noonan syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder|LEOPARD syndrome 1|Noonan syndrome 1|Juvenile myelomonocytic leukemia|Metachondromatosis|Primary dilated cardiomyopathy|Cardiomyopathy|Metachondromatosis|Noonan syndrome and Noonan-related syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.