Variant (rsID / SNP)

rs387906911

rs387906911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,083,227. 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: 2:220083227
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)
Allele change: Missense_A57T

Associated conditions / phenotypes

Microphthalmia, isolated, with coloboma 7

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.