Variant (rsID / SNP)

rs2237051

rs2237051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGF. Location: chromosome 4, position 110,901,198. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EGFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:110901198
Cytoband: 4q25
HGVS: NM_001963.6(EGF):c.2124G>A (p.Met708Ile)
Allele change: Missense_M708I

Associated conditions / phenotypes

Renal hypomagnesemia 4

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.