Variant (rsID / SNP)

rs149642284

rs149642284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,161,003. 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: 1:2161003
Cytoband: 1p36.33
HGVS: NM_003036.4(SKI):c.798C>T (p.Ala266=)
Allele change: Synonymous_A266A

Associated conditions / phenotypes

Cardiovascular phenotype|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.