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CCT5 c.10A>T ;(p.M4L)
Variant ID: 5-10250462-A-T
NM_012073.3(
CCT5
):c.10A>T;(p.M4L)
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:
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18
Variant appearance in text: CCT5: 10A>T; Met4Leu
PubMed Link:
35304488
Variant Present in the following documents:
41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page