FANCA

Gene name: Fanconi anemia, complementation group A
OMIM ID: 607139
Chromosome location: 16q24.3

Mutations

Disease/Phenotype	Fanconi anemia, complementation group A
Reference transcript	NM_000135.2
DNA Change	c.2172_2173insG
A.A. Change	p.Ser725ValfsX69
Exon/Intron	exon 24
Mutation Type	insertion
Reference	Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R.Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. Br J Haematol. 2000 Oct;111(1):338-43.

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Disease/Phenotype	Fanconi anemia, complementation group A
Reference transcript	NM_000135.2
DNA Change	c.4275delT
A.A. Change	p.Asp1427ThrfsX6
Exon/Intron	exon 43
Mutation Type	deletion
Reference	Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R.Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. Br J Haematol. 2000 Oct;111(1):338-43.

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