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Variant (rsID / SNP)

rs140183285

ANK3

rs140183285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK3. Location: chromosome 10, position 61,830,642. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANK3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:61830642
Cytoband
10q21.2
HGVS
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser)
Allele change
Missense_T3333S

Associated conditions / phenotypes

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Public references

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