Variant (rsID / SNP)

rs62129078

rs62129078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELSPBP1. Location: chromosome 19, position 48,517,538. The table records no clinical significance for this variant.

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Reference-table entries

ELSPBP1Not classified

Variant type: missense_variant
Chromosome / position: 19:48517538
HGVS: NM_022142.5,c.181G>A,p.Gly61Ser
Allele change: Missense_G61S

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.