Variant (rsID / SNP)

rs387906910

rs387906910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,074,758. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCB6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:220074758
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)
Allele change: Missense_L811V

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.