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MAP1LC3B c.40+234T>C
Variant ID: 16-87426307-T-C
NM_022818.4(
MAP1LC3B
):c.40+234T>C
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:
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs76082995
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page
Item-level analyses reveal genetic heterogeneity in neuroticism.
Nature Communications
Nagel, Mats M; Watanabe, Kyoko K; Stringer, Sven S; Posthuma, Danielle D; van der Sluis, Sophie S
Publication Date: 2018-03-02
Variant appearance in text: rs76082995
PubMed Link:
29500382
Variant Present in the following documents:
41467_2018_3242_MOESM2_ESM.pdf
View BVdb publication page