Variant (rsID / SNP)
rs80359862
rs80359862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESCO2. Location: chromosome 8, position 27,646,357. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ESCO2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:27646357
- Cytoband
- 8p21.1
- HGVS
- NM_001017420.3(ESCO2):c.1132-7A>G
- Allele change
- Silent
Associated conditions / phenotypes
Roberts-SC phocomelia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.