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Variant (rsID / SNP)

rs6120033

EFCAB8

rs6120033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFCAB8. Location: chromosome 20, position 31,494,382. The table records no clinical significance for this variant.

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Reference-table entries

EFCAB8Not classified
Variant type
missense_variant
Chromosome / position
20:31494382
HGVS
NM_001143967.2,c.1103G>A,p.Arg368His
Allele change
Missense_R368H

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.