SI c.436G>C ;(p.V146L)

Variant ID: 3-164786557-C-G

NM_001041.3(SI):c.436G>C;(p.V146L)

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:

Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Motwani, Mona M; Pawaria, Sudesh S; Bernier, Jennifer J; Moses, Stephanie S; Henry, Kate K; Fang, Terry T; Burkly, Linda L; Marshak-Rothstein, Ann A; Fitzgerald, Katherine A KA
Publication Date: 2019-04-16

Variant appearance in text: SI: V146L
PubMed Link: 30944222
Variant Present in the following documents:
  • Main text
View BVdb publication page