Variant (rsID / SNP)

rs1572983

rs1572983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAAT. Location: chromosome 9, position 104,133,628. Clinical significance in the table: Benign.

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Reference-table entries

BAATBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:104133628
Cytoband: 9q31.1
HGVS: NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)
Allele change: Missense_R20Q

Associated conditions / phenotypes

Hypercholanemia, familial 1|Bile acid conjugation defect 1

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.