Variant (rsID / SNP)

rs150934009

rs150934009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,234,480. Clinical significance in the table: Likely benign.

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Reference-table entries

SKILikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:2234480
Cytoband: 1p36.32
HGVS: NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
Allele change: Missense_A345T

Associated conditions / phenotypes

Shprintzen-Goldberg syndrome|Cardiovascular phenotype

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.