Bibliome.ai browser hg19
Search
About
Stats
FAQ
BBS7 c.1318T>C ;(p.F440L)
Variant ID: 4-122760839-A-G
NM_176824.2(
BBS7
):c.1318T>C;(p.F440L)
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:
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21
Variant appearance in text: BBS7: 1318T>C; Phe440Leu
PubMed Link:
30464253
Variant Present in the following documents:
41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page