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LRP1 c.2076T>G ;(p.F692L)
Variant ID: 12-57554772-T-G
NM_002332.2(
LRP1
):c.2076T>G;(p.F692L)
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:
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Bmc Medical Genomics
Farncombe, Kirsten M KM; Thain, Emily E; Barnett-Tapia, Carolina C; Sadeghian, Hamid H; Kim, Raymond H RH
Publication Date: 2022-07-15
Variant appearance in text: LRP1: Phe692Leu
PubMed Link:
35840934
Variant Present in the following documents:
Main text
12920_2022_Article_1304.pdf
View BVdb publication page