Variant (rsID / SNP)
rs34708521
rs34708521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPEF2. Location: chromosome 5, position 35,670,303. Clinical significance in the table: Benign.
Reference-table entries
SPEF2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:35670303
- Cytoband
- 5p13.2
- HGVS
- NM_024867.4(SPEF2):c.1498G>A (p.Asp500Asn)
- Allele change
- Missense_D500N
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
