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SI c.557_558delinsGG ;(p.S186W)
Variant ID: 3-164785205-AG-CC
NM_001041.3(
SI
):c.557_558delinsGG;(p.S186W)
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:
Dark noise and retinal degeneration from D190N-rhodopsin.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Silverman, Daniel D; Chai, Zuying Z; Yue, Wendy W S WWS; Ramisetty, Sravani Keerthi SK; Bekshe Lokappa, Sowmya S; Sakai, Kazumi K; Frederiksen, Rikard R; Bina, Parinaz P; Tsang, Stephen H SH; Yamashita, Takahiro T; Chen, Jeannie J; Yau, King-Wai KW
Publication Date: 2020-09-15
Variant appearance in text: SI: S186W
PubMed Link:
32873651
Variant Present in the following documents:
Main text
View BVdb publication page