Variant (rsID / SNP)

rs387907303

rs387907303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,160,552. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SKIPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:2160552
Cytoband: 1p36.33
HGVS: NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
Allele change: Missense_G116E

Associated conditions / phenotypes

Shprintzen-Goldberg 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.