Variant (rsID / SNP)

rs4430553

rs4430553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HELB. Location: chromosome 12, position 66,698,895. The table records no clinical significance for this variant.

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Reference-table entries

HELBNot classified

Variant type: missense_variant
Chromosome / position: 12:66698895
HGVS: NM_001370285.1,c.572T>C,p.Leu191Pro
Allele change: Silent

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.