Variant (rsID / SNP)

rs149430070

rs149430070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL4. Location: chromosome 20, position 50,418,924. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SALL4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 20:50418924
Cytoband: 20q13.2
HGVS: NM_020436.5(SALL4):c.24A>G (p.Lys8=)
Allele change: Synonymous_K8K

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.