Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143818932

SALL4

rs143818932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SALL4. Location: chromosome 20, position 50,407,735. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SALL4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:50407735
Cytoband
20q13.2
HGVS
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
Allele change
Silent

Associated conditions / phenotypes

Duane-radial ray syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.