Variant (rsID / SNP)

rs13530

rs13530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to R3HCC1. Location: chromosome 8, position 23,150,878. The table records no clinical significance for this variant.

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Reference-table entries

R3HCC1Not classified

Variant type: missense_variant
Chromosome / position: 8:23150878
HGVS: NM_001136108.3,c.1088T>G,p.Leu363Arg
Allele change: Missense_L321R

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.