FH c.1004_1005insC ;(p.M336Dfs*6)

Variant ID: 1-241667445-C-CG

NM_000143.3(FH):c.1004_1005insC;(p.M336Dfs*6)

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:

Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.

The American Journal Of Surgical Pathology
Miettinen, Markku M; Felisiak-Golabek, Anna A; Wasag, Bartosz B; Chmara, Magdalena M; Wang, Zengfeng Z; Butzow, Ralf R; Lasota, Jerzy J
Publication Date: 2016-12

Variant appearance in text: FH: 1004_1005insC
PubMed Link: 27454940
Variant Present in the following documents:
  • Main text
View BVdb publication page