Variant (rsID / SNP)
rs2017698
rs2017698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED25. Location: chromosome 19, position 50,338,236. Clinical significance in the table: Benign.
Reference-table entries
MED25Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:50338236
- Cytoband
- 19q13.33
- HGVS
- NM_030973.4(MED25):c.1483-7C>T
- Allele change
- Silent
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2B2|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
