Variant (rsID / SNP)
rs62637603
rs62637603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF15. Location: chromosome 17, position 8,215,927. Clinical significance in the table: Benign.
Reference-table entries
ARHGEF15Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:8215927
- Cytoband
- 17p13.1
- HGVS
- NM_173728.4(ARHGEF15):c.570C>T (p.Thr190=)
- Allele change
- Synonymous_T190T
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
