Variant (rsID / SNP)

rs112892337

rs112892337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFAT. Location: chromosome 8, position 135,614,553. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZFATUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:135614553
Cytoband: 8q24.22
HGVS: NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)
Allele change: Missense_S458C

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.