HP c.1114A>G ;(p.T372A)

Variant ID: 16-72094682-A-G

NM_005143.3(HP):c.1114A>G;(p.T372A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: HP: 1114A>G; Thr372Ala
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Haptoglobin in ultra-high risk of psychosis - Findings from the longitudinal youth at risk study (LYRIKS).

Brain, Behavior, & Immunity - Health
Yee, Jie Yin JY; Chow, Si Qing SQ; Lim, Keane K; Goh, Wilson W; Sng, Judy J; Lee, Tih-Shin TS; Lee, Jimmy J
Publication Date: 2022-08

Variant appearance in text: rs470428
PubMed Link: 35757657
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: HP: T372A; rs470428
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: HP: T372A; rs470428
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: HP: 1114A>G; Thr372Ala
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 20
  • pone.0210079.s007.xlsx, sheet 22
View BVdb publication page



Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Oncotarget
Ahlborn, Lise Barlebo LB; Tuxen, Ida Viller IV; Mouliere, Florent F; Kinalis, Savvas S; Schmidt, Ane Y AY; Rohrberg, Kristoffer Staal KS; Santoni-Rugiu, Eric E; Nielsen, Finn Cilius FC; Lassen, Ulrik U; Yde, Christina Westmose CW; Oestrup, Olga O; Mau-Sorensen, Morten M
Publication Date: 2018-08-24

Variant appearance in text: HP: 1114A>G; T372A
PubMed Link: 30220966
Variant Present in the following documents:
  • oncotarget-09-32570-s003.xlsx, sheet 1
View BVdb publication page