Variant (rsID / SNP)

rs141862996

rs141862996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,234,824. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SKIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:2234824
Cytoband: 1p36.32
HGVS: NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
Allele change: Missense_A399V

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.