ESR1 c.368C>A ;(p.P123H)

Variant ID: 6-152129415-C-A

NM_000125.3(ESR1):c.368C>A;(p.P123H)

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:

Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Human Molecular Genetics
Kim, Tae-Eun TE; Newman, Andrew J AJ; Imberdis, Thibaut T; Brontesi, Lisa L; Tripathi, Arati A; Ramalingam, Nagendran N; Fanning, Saranna S; Selkoe, Dennis D; Dettmer, Ulf U
Publication Date: 2021-11-16

Variant appearance in text: ESR: P123H
PubMed Link: 34254125
Variant Present in the following documents:
  • ddab188.pdf
View BVdb publication page