NDUFB3 c.19C>T ;(p.H7Y)

Variant ID: 2-201943624-C-T

NM_002491.2(NDUFB3):c.19C>T;(p.H7Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: NDUFB3: H7Y
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 7
View BVdb publication page



Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics
Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV
Publication Date: 2020-09-18

Variant appearance in text: NDUFB3: H7Y; rs144513268
PubMed Link: 32948195
Variant Present in the following documents:
  • 12920_2020_763_MOESM1_ESM.xls, sheet 6
View BVdb publication page



De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Cold Spring Harbor Molecular Case Studies
Assia Batzir, Nurit N; Bhagwat, Pranjali K PK; Eble, Tanya N TN; Liu, Pengfei P; Eng, Christine M CM; Elsea, Sarah H SH; Robak, Laurie A LA; Scaglia, Fernando F; Goldman, Alica M AM; Dhar, Shweta U SU; Wangler, Michael F MF
Publication Date: 2019-06

Variant appearance in text: NDUFB3: 19C>T; His7Tyr; rs144513268
PubMed Link: 30850373
Variant Present in the following documents:
  • Main text
  • MCS003673Ass.pdf
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: NDUFB3: 19C>T; His7Tyr; rs144513268
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs144513268
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page