Variant (rsID / SNP)

rs55865069

rs55865069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,448,463. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KMT2DBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:49448463
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
Allele change: Missense_R83Q

Associated conditions / phenotypes

Kabuki syndrome|Kabuki syndrome 1

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.