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Variant (rsID / SNP)

rs34708521

SPEF2

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.