Variant (rsID / SNP)

rs78538497

rs78538497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALB. Location: chromosome 4, position 74,280,859. 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: 4:74280859
Cytoband: 4q13.3
HGVS: NM_000477.7(ALB):c.1166A>T (p.Asp389Val)
Allele change: Missense_D389V

Associated conditions / phenotypes

ALBUMIN IOWA CITY 1|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.