Glossary entry

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?
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/...
Peer comment(s):

agree *TRANSCRIPT
42 mins
Gracias de nuevo, *TRANSCRIPT.
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