Variant (rsID / SNP)

rs137853127

rs137853127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SATB2. Location: chromosome 2, position 200,213,882. Clinical significance in the table: Pathogenic.

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Reference-table entries

SATB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:200213882
Cytoband: 2q33.1
HGVS: NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
Allele change: Nonsense_R239X

Associated conditions / phenotypes

Chromosome 2q32-q33 deletion syndrome|Cleft palate|Intellectual disability

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.