Variant (rsID / SNP)

rs144663365

rs144663365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZBTB20. Location: chromosome 3, position 114,069,761. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ZBTB20Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:114069761
Cytoband: 3q13.31
HGVS: NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu)
Allele change: Missense_D315E

Associated conditions / phenotypes

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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