Variant (rsID / SNP)
rs112445441
rs112445441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRAS. Location: chromosome 12, position 25,398,281. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:25398281
- Cytoband
- 12p12.1
- HGVS
- NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
- Allele change
- Missense_G13A
Associated conditions / phenotypes
Breast adenocarcinoma|Non-small cell lung carcinoma|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|Neoplasm of the large intestine|Acute myeloid leukemia|Thyroid tumor|Neoplasm of ovary|OCULOECTODERMAL SYNDROME, SOMATIC|Inborn genetic diseases|Nevus sebaceous|Noonan syndrome and Noonan-related syndrome|Encephalocraniocutaneous lipomatosis|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.