Variant (rsID / SNP)
rs104894365
rs104894365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRAS. Location: chromosome 12, position 25,398,279. Clinical significance in the table: Pathogenic.
Reference-table entries
KRASPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:25398279
- Cytoband
- 12p12.1
- HGVS
- NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
- Allele change
- Missense_V14I
Associated conditions / phenotypes
Noonan syndrome 3|Endometrial carcinoma|RASopathy|Noonan syndrome|Noonan syndrome|Cardio-facio-cutaneous syndrome|Inborn genetic diseases|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.