Variant (rsID / SNP)

rs200932017

rs200932017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA5. Location: chromosome 4, position 66,361,129. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPHA5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:66361129
Cytoband: 4q13.1
HGVS: NM_001281766.3(EPHA5):c.1043A>G (p.Asp348Gly)
Allele change: Missense_D348G

Associated conditions / phenotypes

Astrocytoma

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.