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Variant (rsID / SNP)

rs144689354

DNMT3A

rs144689354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNMT3A. Location: chromosome 2, position 25,466,800. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNMT3AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:25466800
Cytoband
2p23.3
HGVS
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
Allele change
Missense_R446W

Associated conditions / phenotypes

Tall stature-intellectual disability-facial dysmorphism syndrome

Public references

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