Variant (rsID / SNP)
rs200579008
rs200579008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB3GAP2. Location: chromosome 1, position 220,326,514. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RAB3GAP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:220326514
- Cytoband
- 1q41
- HGVS
- NM_012414.4(RAB3GAP2):c.3867+13C>T
- Allele change
- Silent
Associated conditions / phenotypes
Martsolf syndrome|Warburg micro syndrome 2|Warburg micro syndrome 2|Martsolf syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.