Variant (rsID / SNP)

rs80008208

rs80008208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALB. Location: chromosome 4, position 74,270,111. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:74270111
Cytoband: 4q13.3
HGVS: NM_000477.5(ALB):c.67C>T (p.Arg23Cys)
Allele change: Missense_R23C

Associated conditions / phenotypes

PROALBUMIN MALMO|Hyperthyroxinemia, familial dysalbuminemic

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.