Variant (rsID / SNP)
rs104894360
rs104894360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRAS. Location: chromosome 12, position 25,362,838. Clinical significance in the table: Pathogenic.
Reference-table entries
KRASPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:25362838
- Cytoband
- 12p12.1
- HGVS
- NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
- Allele change
- Silent
Associated conditions / phenotypes
Noonan syndrome 3|Cardiofaciocutaneous syndrome 2|RASopathy|Noonan syndrome|11 conditions|Cardio-facio-cutaneous syndrome|Noonan syndrome|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.