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Variant (rsID / SNP)

rs114591600

ZFP57

rs114591600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFP57. Location: chromosome 6, position 29,641,514. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZFP57Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:29641514
Cytoband
6p22.1
HGVS
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln)
Allele change
Missense_R125Q

Associated conditions / phenotypes

Diabetes mellitus, transient neonatal, 1|Monogenic diabetes|Transitory neonatal diabetes mellitus

Public references

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