Mutation Details for c.3023T>A
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cDNA Name
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c.3023T>A
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Protein Name
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p.Val1008Asp
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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V1008D
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Other Details
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This mutation was detected by SSCA and direct sequencing.
The V1008D mutation was identified in two spanish affected sisters with mild lung disease and PS carrying the G542X mutation on the other chromosome.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X
1998-01-08
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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This mutation was found in two sisters.
1. Patient (F) is 23y, has PS, mild lung disease and sweat-chloride levels of 71mM/l.
2. Patient (F) is 20y, has PS, mild lung disease and sweat-chloride levels of 71mM/l.
G542X was found on the other allele for both patients.
(Pers. corr. Casals)
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Reference
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Casals et al. (NL#70)
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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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