Variant (rsID / SNP)

rs1979277

rs1979277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHMT1. Location: chromosome 17, position 18,232,096. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SHMT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:18232096
Cytoband: 17p11.2
HGVS: NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe)
Allele change: Missense_L336F

Associated conditions / phenotypes

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.