DNPH1 c.270C>A ;(p.V90=)

Variant ID: 6-43193877-G-T

NM_006443.2(DNPH1):c.270C>A;(p.V90=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: DNPH1: Val90Val; rs7832
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: DNPH1: V90V
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Genome-wide and candidate gene association studies of placental abruption.

International Journal Of Molecular Epidemiology And Genetics
Workalemahu, Tsegaselassie T; Enquobahrie, Daniel A DA; Moore, Amy A; Sanchez, Sixto E SE; Ananth, Cande V CV; Pacora, Percy N PN; Liang, Liming L; Salazar, Manuel M; Williams, Michelle A MA
Publication Date: 2013

Variant appearance in text: rs7832
PubMed Link: 24046805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors.

American Journal Of Human Genetics
Andreassen, Ole A OA; Djurovic, Srdjan S; Thompson, Wesley K WK; Schork, Andrew J AJ; Kendler, Kenneth S KS; O'Donovan, Michael C MC; Rujescu, Dan D; Werge, Thomas T; van de Bunt, Martijn M; Morris, Andrew P AP; McCarthy, Mark I MI; , ; , ; , ; Roddey, J Cooper JC; McEvoy, Linda K LK; Desikan, Rahul S RS; Dale, Anders M AM
Publication Date: 2013-02-07

Variant appearance in text: rs7832
PubMed Link: 23375658
Variant Present in the following documents:
  • Main text
View BVdb publication page