Variant (rsID / SNP)

rs387907304

rs387907304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,160,299. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SKIPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:2160299
Cytoband: 1p36.33
HGVS: NM_003036.4(SKI):c.94C>G (p.Leu32Val)
Allele change: Missense_L32V

Associated conditions / phenotypes

Shprintzen-Goldberg syndrome|Inborn genetic diseases

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.