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