Variant (rsID / SNP)

rs3750450

rs3750450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB41L4B. Location: chromosome 9, position 111,945,049. The table records no clinical significance for this variant.

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Reference-table entries

EPB41L4BNot classified

Variant type: missense_variant
Chromosome / position: 9:111945049
HGVS: NM_019114.5,c.2447A>C,p.Asn816Thr
Allele change: Missense_N816T

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.