Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147441359

ZBTB24

rs147441359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZBTB24. Location: chromosome 6, position 109,803,084. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ZBTB24Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:109803084
Cytoband
6q21
HGVS
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)
Allele change
Missense_R49Q

Associated conditions / phenotypes

Kabuki syndrome 1|Immunodeficiency-centromeric instability-facial anomalies syndrome 2

Public references

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