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AQP11 c.749T>C ;(p.M250T)
Variant ID: 11-77320355-T-C
NM_173039.2(
AQP11
):c.749T>C;(p.M250T)
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:
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16
Variant appearance in text: AQP11: M250T
PubMed Link:
25773295
Variant Present in the following documents:
srep09124-s2.xls, sheet 1
View BVdb publication page