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Variant (rsID / SNP)

rs121913459

ABL1

rs121913459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABL1. Location: chromosome 9, position 133,748,283. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ABL1Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:133748283
Cytoband
9q34.12
HGVS
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)
Allele change
Missense_T334I

Associated conditions / phenotypes

Leukemia, Philadelphia chromosome-positive, resistant to imatinib|Chronic myelogenous leukemia, BCR-ABL1 positive|Lymphoblastic leukemia, acute, with lymphomatous features

Public references

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