ABCA1 c.5731A>C ;(p.I1911L)

Variant ID: 9-107555093-T-G

NM_005502.3(ABCA1):c.5731A>C;(p.I1911L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Publication Date: 2021-11

Variant appearance in text: ABCA1: 5731A>C; I1911L
PubMed Link: 34103343
Variant Present in the following documents:
  • jnnp-2020-325437supp002.pdf
View BVdb publication page



Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Publication Date: 2021-11

Variant appearance in text: ABCA1: 5731A>C; I1911L
PubMed Link: 34103343
Variant Present in the following documents:
  • jnnp-2020-325437supp002.pdf
View BVdb publication page