FH c.118A>G ;(p.N40D)

Variant ID: 1-241682905-T-C

NM_000143.3(FH):c.118A>G;(p.N40D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Making Sense of Patient-Derived iPSCs, Transdifferentiated Neurons, Olfactory Neuronal Cells, and Cerebral Organoids as Models for Psychiatric Disorders.

The International Journal Of Neuropsychopharmacology
Unterholzner, Jakob J; Millischer, Vincent V; Wotawa, Christoph C; Sawa, Akira A; Lanzenberger, Rupert R
Publication Date: 2021-10-23

Variant appearance in text: FH: N40D
PubMed Link: 34216465
Variant Present in the following documents:
  • pyab037.pdf
View BVdb publication page



Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 118A>G; Asn40Asp
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Delta Opioid Pharmacology in Relation to Alcohol Behaviors.

Handbook Of Experimental Pharmacology
Alongkronrusmee, Doungkamol D; Chiang, Terrance T; van Rijn, Richard M RM
Publication Date: 2018

Variant appearance in text: FH: Asn40Asp
PubMed Link: 27316912
Variant Present in the following documents:
  • Main text
View BVdb publication page