Bibliome.ai browser hg19
Search
About
Stats
FAQ
CCT5 c.328_330delinsATG ;(p.V110M)
Variant ID: 5-10254947-GTT-ATG
NM_012073.3(
CCT5
):c.328_330delinsATG;(p.V110M)
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: CCT5: V110M
PubMed Link:
25773295
Variant Present in the following documents:
srep09124-s2.xls, sheet 1
View BVdb publication page