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LMNA c.608A>T ;(p.E203V)
Variant ID: 1-156104288-A-T
NM_170707.3(
LMNA
):c.608A>T;(p.E203V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Biomed Research International
Zhao, Yue Y; Feng, Yue Y; Zhang, Yun-Mei YM; Ding, Xiao-Xue XX; Song, Yu-Zhu YZ; Zhang, A-Mei AM; Liu, Li L; Zhang, Hong H; Ding, Jia-Huan JH; Xia, Xue-Shan XS
Publication Date: 2015
Variant appearance in text: LMNA: Glu203Val
PubMed Link:
26199943
Variant Present in the following documents:
BMRI2015-561819.pdf
View BVdb publication page
The lamin protein family.
Genome Biology
Dittmer, Travis A TA; Misteli, Tom T
Publication Date: 2011
Variant appearance in text: LMNA: E203V
PubMed Link:
21639948
Variant Present in the following documents:
gb-2011-12-5-222.pdf
View BVdb publication page