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NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) AND Acquired hemoglobin H disease

Significance: Pathogenic
ClinVar: RCV000012507

Variant: NM_000489.5(ATRX):c.236C>G (p.Ser79Ter)

Type: Variant
Allele: NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) 26780
Gene:
Type: single nucleotide variant
Location: ChrX: 77697589 - assembly GRCh38
ChrX: 76953077 - assembly GRCh37
References: dbSNP: 122445107
OMIM: 300032.0021

Condition

Disease: Acquired hemoglobin H disease

Citation

    In bone marrow cDNA from a patient with alpha-thalassemia myelodysplasia syndrome (300448), Gibbons et al. (2003) found a C-to-G transversion in exon 4 of the ATRX gene, resulting in a ser79-to-ter (S79X) substitution. A mixture of mutant and wildtype sequence in DNA from bone marrow and peripheral blood was found.
PMID:12858175