NM_000489.5(ATRX):c.20+1G>A AND Acquired hemoglobin H disease
| Significance: | Pathogenic |
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| ClinVar: | RCV000012506 |
Variant: NM_000489.5(ATRX):c.20+1G>A |
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| Type: | Variant |
Allele: NM_000489.5(ATRX):c.20+1G>A 26779 |
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| Gene: | ATRX |
| Type: | single nucleotide variant |
| Location: |
ChrX: 77785981
- assembly
GRCh38 ChrX: 77041467 - assembly GRCh37 |
| References: | dbSNP:
587776756 OMIM: 300032.0020 |
Condition |
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| Disease: | Acquired hemoglobin H disease |
Citation |
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In a case of alpha-thalassemia myelodysplasia syndrome (300448), Gibbons et al. (2003) identified a G-to-A transition in the canonic splice donor site (GT) of intron 1 of the ATRX gene. The mutation was present in granulocytes but absent in DNA from both buccal cells and a lymphoblastoid cell line derived from the patient. Because ATMDS is a clonal disorder affecting myeloid progenitors, DNA isolated from the unfractionated white cells (granulocytes and lymphocytes) in peripheral blood had a mixture of mutant and wildtype sequences. PMID:12858175 |
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