NA14180
DNA from Fibroblast
Description:
HEMOCHROMATOSIS; HFE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Sample Source
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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 1 |
613609.0001; HEMOCHROMATOSIS |
| Identified Mutation |
CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene. |
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| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 2 |
613609.0001; HEMOCHROMATOSIS |
| Identified Mutation |
CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene. |
| Remarks |
Elevated serum iron indices; elevated iron stores on liver biopsy; homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene |
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