Mutation Details for c.3389G>C
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cDNA Name
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c.3389G>C
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Protein Name
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p.Gly1130Ala
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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G1130A
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Other Details
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This mutation was detected in the heterozygous state in a Turkish CBAVD patient who also is heterozygous for the D1152H mutation.
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Contributors
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Dayangac D,
Erdem H,
Özgüc M,
Dörk T
2001-10-21
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Institute
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Dept. of Medical Biology Hacettepe University,
Sihhiye, Turkey
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Submitted Phenotype Details
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One patient (34, male) has been diagnosed with CBAVD. He is otherwise asymptomatic. He carries D1152H on the other allele.
(pers. corr. Dayangac)
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Reference
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Dayangac et al. 2001
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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