Variant (rsID / SNP)

rs13231116

rs13231116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2C. Location: chromosome 7, position 151,877,127. Clinical significance in the table: Benign.

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Reference-table entries

KMT2CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:151877127
Cytoband: 7q36.1
HGVS: NM_170606.3(KMT2C):c.7234C>A (p.Pro2412Thr)
Allele change: Missense_P2412T

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.