COL4A5 c.1186C>T ;(p.P396S)

Variant ID: X-107834308-C-T

NM_033380.2(COL4A5):c.1186C>T;(p.P396S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Infection And Drug Resistance
Shen, Yingying Y; Li, Yuzhu Y; Li, Hangchao H; Liu, Qi Q; Dong, Huijie H; Wang, Bo B; Ye, Baodong B; Lin, Shenyun S; Shen, Yiping Y; Wu, Dijiong D
Publication Date: 2021

Variant appearance in text: ATS: 1186C>T
PubMed Link: 33854343
Variant Present in the following documents:
  • idr-14-1311.pdf
View BVdb publication page



Abstracts of the 50th Anniversary ESPN Meeting, Glasgow, September 2017.

Pediatric Nephrology (Berlin, Germany)
Publication Date: 2017-09

Variant appearance in text: COL4A5: 1186C>T
PubMed Link: 28840254
Variant Present in the following documents:
  • 467_2017_Article_3753.pdf
View BVdb publication page