RET c.1400T>C ;(p.V467A)

Variant ID: 10-43606791-T-C

NM_020975.4(RET):c.1400T>C;(p.V467A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Abstracts of the 50th Anniversary ESPN Meeting, Glasgow, September 2017.

Pediatric Nephrology (Berlin, Germany)
Publication Date: 2017-09

Variant appearance in text: RET: 1400T>C
PubMed Link: 28840254
Variant Present in the following documents:
  • 467_2017_Article_3753.pdf
View BVdb publication page



Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2012-08

Variant appearance in text: RET: 1400T>C; V467A
PubMed Link: 22648184
Variant Present in the following documents:
  • Main text
View BVdb publication page