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CCT5 c.1498+36_1498+38del
Variant ID: 5-10263462-GGGA-G
NM_012073.3(
CCT5
):c.1498+36_1498+38del
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:
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: CCT5: 1498+36_1498+38del
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 20
pone.0210079.s007.xlsx, sheet 18
pone.0210079.s007.xlsx, sheet 19
pone.0210079.s007.xlsx, sheet 21
pone.0210079.s007.xlsx, sheet 22
pone.0210079.s007.xlsx, sheet 4
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: CCT5: 1498+36_1498+38del
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
View BVdb publication page