Variant (rsID / SNP)

rs773151547

rs773151547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,237,581. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SKIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:2237581
Cytoband: 1p36.32
HGVS: NM_003036.4(SKI):c.1890C>T (p.Ala630=)
Allele change: Synonymous_A630A

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.