Variant (rsID / SNP)

rs34404985

rs34404985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,176. Clinical significance in the table: other.

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Reference-table entries

HBBOther

Clinical significance (as recorded): other
Variant type: single nucleotide variant
Chromosome / position: 11:5248176
Cytoband: 11p15.4
HGVS: NM_000518.4(HBB):c.76G>C (p.Gly26Arg)
Allele change: Missense_G26R

Associated conditions / phenotypes

HEMOGLOBIN G (TAIWAN-AMI)

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.