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Variant (rsID / SNP)

rs200088180

KMT2D

rs200088180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,445,526. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KMT2DConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:49445526
Cytoband
12q13.12
HGVS
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
Allele change
Missense_P647Q

Associated conditions / phenotypes

Kabuki syndrome|Kabuki syndrome 1

Public references

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