Variant (rsID / SNP)

rs112236653

rs112236653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,443,799. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KMT2DBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:49443799
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
Allele change: Missense_P1191L

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.