Variant (rsID / SNP)

rs116690538

rs116690538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZC3H14. Location: chromosome 14, position 89,039,308. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZC3H14Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:89039308
Cytoband: 14q31.3
HGVS: NM_024824.5(ZC3H14):c.818A>G (p.Tyr273Cys)
Allele change: Missense_Y239C

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.