Glossary entry (derived from question below)
Spanish term or phrase:
>A/del. Ex18
English translation:
deletion of exon 18 (del. Ex18) and T>A
Jun 28, 2005 09:59
18 yrs ago
3 viewers *
Spanish term
>A/del. Ex18
Spanish to English
Science
Genetics
genotype
El genotipo del paciente es IVS18+2T>A/del. Ex18
I have no experience of this type of annotation. Should any part of this be translated? del?
I have no experience of this type of annotation. Should any part of this be translated? del?
Proposed translations
(English)
5 +1 | deletion of exon 18 (del. Ex18) and T>A | Andrés Martínez |
Change log
Jul 4, 2005 19:24: Andrés Martínez changed "Field" from "Medical" to "Science" , "Field (specific)" from "Medical (general)" to "Genetics"
Proposed translations
+1
16 mins
Selected
deletion of exon 18 (del. Ex18) and T>A
del. = deleción = deletion
Ex18 = exón 18 = exon 18 La abreviatura es igual en inglés
T>A Cambio de timina (thymine) por adenina (adenine). Abreviado igual en inglés.
Algunos ejemplos:
P gene mutations
***delEx7***, c.647_807del 161bp, ***Deletion of Exon 7, EX7, ***African Associated with BOCA .0001 ... H/R615, c.1844A/G, p.615His/Arg, EX18, 1800414, Lee et al., 1995 ...
albinismdb.med.umn.edu/oca2mut.html
http://genetics.med.harvard.edu/~seidman/cg3/muts/MYBPC3_IVS...
The IVS18+2T>C mutation of human cardiac Myosin-Binding Protein C
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Note added at 18 mins (2005-06-28 10:17:40 GMT)
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Otro ejemplo de esta notación:
http://benaroyaresearch.org/investigators/concannon_patrick/...
4 KudoZ points awarded for this answer.
Comment: "excellent, thanks"
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