MGA c.4567C>T ;(p.P1523S)

Variant ID: 15-42032383-C-T

NM_001164273.1(MGA):c.4567C>T;(p.P1523S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs17677991
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.pdf
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs17677991
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.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: rs17677991
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs17677991
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page