Variant (rsID / SNP)
rs3746504
rs3746504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF335. Location: chromosome 20, position 44,581,348. Clinical significance in the table: Benign.
Reference-table entries
ZNF335Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:44581348
- Cytoband
- 20q13.12
- HGVS
- NM_022095.4(ZNF335):c.2703C>T (p.Ser901=)
- Allele change
- Synonymous_S901S
Associated conditions / phenotypes
Microcephalic primordial dwarfism due to ZNF335 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.