Variant (rsID / SNP)

rs111642750

rs111642750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB41. Location: chromosome 1, position 29,320,013. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EPB41Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:29320013
Cytoband: 1p35.3
HGVS: NM_001376013.1(EPB41):c.640G>C (p.Val214Leu)
Allele change: Missense_V5I

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.