Variant (rsID / SNP)

rs200074767

rs200074767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,079,112. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:220079112
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.1385C>T (p.Thr462Met)
Allele change: Missense_T462M

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.