RET c.2826G>A ;(p.W942*)

Variant ID: 10-43619143-G-A

NM_020975.4(RET):c.2826G>A;(p.W942*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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UCSC Genome Browser
ClinVar
dbSNP

Publications:

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A
Publication Date: 2000-01-04

Variant appearance in text: RET: W942X
PubMed Link: 10618407
Variant Present in the following documents:
  • Main text
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