Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs41274676

ANK3

rs41274676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK3. Location: chromosome 10, position 61,836,174. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ANK3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:61836174
Cytoband
10q21.2
HGVS
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)
Allele change
Missense_P1489S

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.