Variant (rsID / SNP)

rs41265123

rs41265123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECEL1. Location: chromosome 2, position 233,348,851. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ECEL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:233348851
Cytoband: 2q37.1
HGVS: NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln)
Allele change: Missense_E423Q

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.