PC c.113A>T ;(p.K38M)

Variant ID: 11-66639518-T-A

NM_001040716.1(PC):c.113A>T;(p.K38M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

Jimd Reports
Forny, Patrick P; Burda, Patricie P; Bode, Peter P; Rohrbach, Marianne M
Publication Date: 2021-01

Variant appearance in text: PC: 113A>T
PubMed Link: 33473341
Variant Present in the following documents:
  • JMD2-57-58.pdf
View BVdb publication page



SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Molecular Genetics & Genomic Medicine
Casey, Ruth T RT; Ascher, David B DB; Rattenberry, Eleanor E; Izatt, Louise L; Andrews, Katrina A KA; Simpson, Helen L HL; Challis, Benjamen B; Park, Soo-Mi SM; Bulusu, Venkata R VR; Lalloo, Fiona F; Pires, Douglas E V DEV; West, Hannah H; Clark, Graeme R GR; Smith, Philip S PS; Whitworth, James J; Papathomas, Thomas G TG; Taniere, Phillipe P; Savisaar, Rosina R; Hurst, Laurence D LD; Woodward, Emma R ER; Maher, Eamonn R ER
Publication Date: 2017-05

Variant appearance in text: PC: 113A>T
PubMed Link: 28546994
Variant Present in the following documents:
  • Main text
  • MGG3-5-237.pdf
View BVdb publication page