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CELSR2 c.7596+58C>T
Variant ID: 1-109813719-C-T
NM_001408.2(
CELSR2
):c.7596+58C>T
This variant was identified in 3 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: rs17035665
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.
Cells
Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N
Publication Date: 2019-08-23
Variant appearance in text: rs17035665
PubMed Link:
31450785
Variant Present in the following documents:
cells-08-00962-s001.pdf
View BVdb publication page
Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.
Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24
Variant appearance in text: rs17035665
PubMed Link:
28438747
Variant Present in the following documents:
benm033277.ww1.pdf
View BVdb publication page