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>A/del. Ex18

English translation: deletion of exon 18 (del. Ex18) and T>A

GLOSSARY ENTRY (DERIVED FROM QUESTION BELOW)
Spanish term or phrase:>A/del. Ex18
English translation:deletion of exon 18 (del. Ex18) and T>A

09:59 Jun 28, 2005
Spanish to English translations [PRO]
Science - Genetics / genotype
Spanish term or phrase: >A/del. Ex18
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?
MJ Barber
Spain
Local time: 06:40
deletion of exon 18 (del. Ex18) and T>A
Explanation:

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

--------------------------------------------------
Note added at 18 mins (2005-06-28 10:17:40 GMT)
--------------------------------------------------

Otro ejemplo de esta notación:
http://benaroyaresearch.org/investigators/concannon_patrick/...
Selected response from:

Andrés Martínez
Spain
Local time: 06:40
Grading comment
excellent, thanks
4 KudoZ points were awarded for this answer



Summary of answers provided
5 +1deletion of exon 18 (del. Ex18) and T>A
Andrés Martínez


  

Answers


16 mins   confidence: Answerer confidence 5/5 peer agreement (net): +1
deletion of exon 18 (del. Ex18) and T>A


Explanation:

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

--------------------------------------------------
Note added at 18 mins (2005-06-28 10:17:40 GMT)
--------------------------------------------------

Otro ejemplo de esta notación:
http://benaroyaresearch.org/investigators/concannon_patrick/...

Andrés Martínez
Spain
Local time: 06:40
Works in field
Native speaker of: Native in SpanishSpanish
PRO pts in category: 28
Grading comment
excellent, thanks

Peer comments on this answer (and responses from the answerer)
agree  *TRANSCRIPT
42 mins
  -> Gracias de nuevo, *TRANSCRIPT.
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