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NM_000489.5(ATRX):c.20+1G>A AND Acquired hemoglobin H disease

Significance: Pathogenic
ClinVar: RCV000012506

Variant: NM_000489.5(ATRX):c.20+1G>A

Type: Variant
Allele: NM_000489.5(ATRX):c.20+1G>A 26779
Gene:
Type: single nucleotide variant
Location: ChrX: 77785981 - assembly GRCh38
ChrX: 77041467 - assembly GRCh37
References: dbSNP: 587776756
OMIM: 300032.0020

Condition

Disease: Acquired hemoglobin H disease

Citation

    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