Variant (rsID / SNP)

rs201319446

rs201319446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOBP. Location: chromosome 6, position 107,955,369. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SOBPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:107955369
Cytoband: 6q21
HGVS: NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser)
Allele change: Missense_P441S

Associated conditions / phenotypes

Intellectual disability, anterior maxillary protrusion, and strabismus

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.