Variant (rsID / SNP)

rs5746244

rs5746244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,626,660. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RAF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:12626660
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
Allele change: Silent

Associated conditions / phenotypes

RASopathy|Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome and Noonan-related syndrome

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.