Variant (rsID / SNP)

rs72549294

rs72549294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIT. Location: chromosome 4, position 55,575,673. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KITBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:55575673
Cytoband: 4q12
HGVS: NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)
Allele change: Missense_N400S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor

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.