THSD7A c.1dup ;(p.M1Nfs*?)

Variant ID: 7-11871571-A-AT

NM_015204.2(THSD7A):c.1dup;(p.M1Nfs*?)

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:

Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.

Cells
Zaragoza, Michael V MV; Nguyen, Cecilia H H CHH; Widyastuti, Halida P HP; McCarthy, Linda A LA; Grosberg, Anna A
Publication Date: 2017-11-01

Variant appearance in text: THSD7A: 1_2insA; Met1Asnfs
PubMed Link: 29104234
Variant Present in the following documents:
  • cells-06-00040-s001.pdf
View BVdb publication page