Variant (rsID / SNP)
rs370921440
rs370921440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKI. Location: chromosome 1, position 2,235,271. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SKIConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:2235271
- Cytoband
- 1p36.32
- HGVS
- NM_003036.4(SKI):c.1212-8C>T
- Allele change
- Silent
Associated conditions / phenotypes
Shprintzen-Goldberg syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.