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CPB1 c.516C>T ;(p.D172=)
Variant ID: 3-148559651-C-T
NM_001871.2(
CPB1
):c.516C>T;(p.D172=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015
Variant appearance in text: rs138120056
PubMed Link:
25905921
Variant Present in the following documents:
pone.0123569.s008.xls, sheet 2
pone.0123569.s008.xls, sheet 11
pone.0123569.s008.xls, sheet 6
View BVdb publication page
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: rs138120056
PubMed Link:
25773295
Variant Present in the following documents:
srep09124-s3.xls, sheet 1
View BVdb publication page