Variant (rsID / SNP)

rs41305805

rs41305805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF335. Location: chromosome 20, position 44,587,926. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZNF335Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:44587926
Cytoband: 20q13.12
HGVS: NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)
Allele change: Missense_F723V

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.