Variant (rsID / SNP)

rs16990964

rs16990964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF335. Location: chromosome 20, position 44,590,732. Clinical significance in the table: Benign.

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Reference-table entries

ZNF335Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:44590732
Cytoband: 20q13.12
HGVS: NM_022095.4(ZNF335):c.1623C>T (p.His541=)
Allele change: Synonymous_H541H

Associated conditions / phenotypes

Microcephalic primordial dwarfism due to ZNF335 deficiency

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.