ESR1 c.299T>G ;(p.L100R)

Variant ID: 6-152129346-T-G

NM_000125.3(ESR1):c.299T>G;(p.L100R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Hereditas
Lv, Hongyan H; Qiao, Baojun B; Fang, Liyuan L; Yang, Lihong L; Wang, Qiuli Q; Wu, Sujing S; Ren, Pengshun P; Li, Lianxiang L
Publication Date: 2019

Variant appearance in text: ESR: 299T>G
PubMed Link: 31889944
Variant Present in the following documents:
  • 41065_2019_Article_114.pdf
View BVdb publication page