Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs483353069

ZBTB20

rs483353069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZBTB20. Location: chromosome 3, position 114,058,267. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ZBTB20Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:114058267
Cytoband
3q13.31
HGVS
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)
Allele change
Missense_K531T

Associated conditions / phenotypes

Intellectual disability-cataracts-calcified pinnae-myopathy 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.