CFH c.3618T>A ;(p.R1206=)

Variant ID: 1-196716365-T-A

NM_000186.3(CFH):c.3618T>A;(p.R1206=)

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:

Synergistic effects of ADAMTS13 deficiency and complement activation in pathogenesis of thrombotic microangiopathy.

Blood
Zheng, Liang L; Zhang, Di D; Cao, Wenjing W; Song, Wen-Chao WC; Zheng, X Long XL
Publication Date: 2019-09-26

Variant appearance in text: HUS: R1206R
PubMed Link: 31409673
Variant Present in the following documents:
  • Main text
View BVdb publication page