Variant (rsID / SNP)

rs142714816

rs142714816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALB. Location: chromosome 4, position 74,274,363. Clinical significance in the table: Likely benign.

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Reference-table entries

ALBLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:74274363
Cytoband: 4q13.3
HGVS: NM_000477.7(ALB):c.323A>G (p.Tyr108Cys)
Allele change: Missense_Y108C

Associated conditions / phenotypes

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.