COL4A5 c.1192C>T ;(p.P398S)

Variant ID: X-107834314-C-T

NM_033380.2(COL4A5):c.1192C>T;(p.P398S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 1192C>T
PubMed Link: 33854343
Variant Present in the following documents:
  • idr-14-1311.pdf
View BVdb publication page