RET c.74-1290T>C

Variant ID: 10-43594617-T-C

NM_020975.4(RET):c.74-1290T>C

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)
Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA
Publication Date: 2012

Variant appearance in text: rs2505531
PubMed Link: 22584707
Variant Present in the following documents:
  • Main text
  • cln-67-s1-57.pdf
View BVdb publication page