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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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