The ATRX splicing variant c.21-1G>A is asymptomatic.
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ABSTRACT:
SUBMITTER: Kojima K
PROVIDER: S-EPMC9474544 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
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The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima Karin K Wada Takahito T Shimbo Hiroko H Ikeda Takahiro T Jimbo Eriko F EF Saitsu Hirotomo H Matsumoto Naomichi N Yamagata Takanori T
Human genome variation 20220914 1
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. This splicing event, NM_000489.6: c.21_133del p.S7Rfs*1, induces exon 2 deletion and early termination. The start codon in exon 3 of ATRX is presumed to produce a slightly shorter but functional ATRX protein. ...[more]
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