Variant (rsID / SNP)

rs115396821

rs115396821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGF. Location: chromosome 4, position 110,890,274. Clinical significance in the table: Likely benign.

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Reference-table entries

EGFLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:110890274
Cytoband: 4q25
HGVS: NM_001963.6(EGF):c.1723G>A (p.Gly575Arg)
Allele change: Missense_G575R

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.