Variant (rsID / SNP)

rs2227263

rs2227263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZBTB24. Location: chromosome 6, position 109,802,651. Clinical significance in the table: Benign.

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Reference-table entries

ZBTB24Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:109802651
Cytoband: 6q21
HGVS: NM_014797.3(ZBTB24):c.579G>A (p.Gln193=)
Allele change: Synonymous_Q193Q

Associated conditions / phenotypes

Immunodeficiency-centromeric instability-facial anomalies syndrome 2

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.