Variant (rsID / SNP)

rs147654123

rs147654123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB41L1. Location: chromosome 20, position 34,783,252. Clinical significance in the table: Likely benign.

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Reference-table entries

EPB41L1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:34783252
Cytoband: 20q11.23
HGVS: NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu)
Allele change: Silent

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.