Variant (rsID / SNP)

rs77625743

rs77625743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFP57. Location: chromosome 6, position 29,641,145. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZFP57Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:29641145
Cytoband: 6p22.1
HGVS: NM_001109809.5(ZFP57):c.743G>A (p.Arg248His)
Allele change: Missense_R248H

Associated conditions / phenotypes

Diabetes mellitus, transient neonatal, 1

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.