Variant (rsID / SNP)

rs1057520053

rs1057520053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2A. Location: chromosome 11, position 118,390,416. Clinical significance in the table: Pathogenic.

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Reference-table entries

KMT2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118390416
Cytoband: 11q23.3
HGVS: NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter)
Allele change: Nonsense_R3744X

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.