Variant (rsID / SNP)

rs138613717

rs138613717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAAT. Location: chromosome 9, position 104,133,284. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BAATUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:104133284
Cytoband: 9q31.1
HGVS: NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)
Allele change: Missense_P135A

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.