CTSC c.1357A>C ;(p.I453L)

Variant ID: 11-88027209-T-G

NM_001814.4(CTSC):c.1357A>C;(p.I453L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs3888798
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: CTSC: I453L; rs3888798
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs3888798
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report.

Bmc Medical Genetics
Li, Mingming M; Chen, Wei W; Sun, Xiaomeng X; Wang, Zhipeng Z; Zou, Xun X; Wei, Hua H; Wang, Zhan Z; Chen, Wansheng W
Publication Date: 2019-09-12

Variant appearance in text: rs3888798
PubMed Link: 31510946
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_880.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3888798
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M
Publication Date: 2017-05

Variant appearance in text: rs3888798
PubMed Link: 28339009
Variant Present in the following documents:
  • ijmm-39-05-1091.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3888798
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page