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HPS5 c.3330-116A>G
Variant ID: 11-18301605-T-C
NM_181507.1(
HPS5
):c.3330-116A>G
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29
Variant appearance in text: rs11024601
PubMed Link:
36991000
Variant Present in the following documents:
41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
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: rs11024601
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06
Variant appearance in text: HPS5: 3330-116A>G; rs11024601
PubMed Link:
33503336
Variant Present in the following documents:
CNR2-4-e1335-s003.xlsx, sheet 1
CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10
Variant appearance in text: rs11024601
PubMed Link:
33302902
Variant Present in the following documents:
12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
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: HPS5: 3330-116A>G; rs11024601
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page