Variant (rsID / SNP)

rs104894364

rs104894364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRAS. Location: chromosome 12, position 25,380,285. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KRASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:25380285
Cytoband: 12p12.1
HGVS: NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)
Allele change: Missense_T58I

Associated conditions / phenotypes

Noonan syndrome 3|Noonan syndrome|RASopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.