Variant (rsID / SNP)

rs201303046

rs201303046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL4. Location: chromosome 20, position 50,408,486. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SALL4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:50408486
Cytoband: 20q13.2
HGVS: NM_020436.5(SALL4):c.536C>G (p.Thr179Ser)
Allele change: Missense_T179S

Associated conditions / phenotypes

Duane-radial ray syndrome

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.