Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs886041856

KMT2A

rs886041856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2A. Location: chromosome 11, position 118,347,664. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KMT2APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:118347664
Cytoband
11q23.3
HGVS
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
Allele change
Nonsense_R1101X

Associated conditions / phenotypes

intellectual deficiency|Wiedemann-Steiner syndrome|Inborn genetic diseases

Public references

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