Variant (rsID / SNP)
rs113993992
rs113993992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBDS. Location: chromosome 7, position 66,459,198. Clinical significance in the table: Pathogenic.
Reference-table entries
SBDSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:66459198
- Cytoband
- 7q11.21
- HGVS
- NM_016038.4(SBDS):c.258+1G>C
- Allele change
- Silent
Associated conditions / phenotypes
Shwachman-Diamond syndrome 1|Aplastic anemia|Shwachman-Diamond syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.