Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs3741625

KMT2D

rs3741625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,434,383. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KMT2DConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:49434383
Cytoband
12q13.12
HGVS
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)
Allele change
Synonymous_P2390P

Associated conditions / phenotypes

Kabuki syndrome 1|Kabuki syndrome

Public references

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