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Variant (rsID / SNP)

rs34387455

HBB

rs34387455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,229. Clinical significance in the table: Likely benign.

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Reference-table entries

HBBLikely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:5248229
Cytoband
11p15.4
HGVS
NM_000518.4(HBB):c.23A>G (p.Glu8Gly)
Allele change
Missense_E8G

Associated conditions / phenotypes

HEMOGLOBIN G (SAN JOSE)

Public references

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