Variants
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rs879255549

  • Affects

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Description

Suspected transfusion reaction. Lan negative phenotype and anti-Lan antibody in the patient's serum. The c.1656-1G>A splice site variant is part of a compound heterozygote (together with ABCB6:c.1118_1124delCGGATCG). This compound heterozygote is the only variation from the reference sequence for ABCB6.

Reference Allele

C


Alternative Allele

T

Chromosome

2


Location

219213503


Variant Type

SNP

Genes

ClinVar

Name

NM_005689.4(ABCB6):c.1656-1G>A


Allele

T


Clinical Significance

Affects

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