SECISBP2 c.1543_1544delinsCA ;(p.M515Q)

Variant ID: 9-91961904-AT-CA

NM_024077.3(SECISBP2):c.1543_1544delinsCA;(p.M515Q)

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:

Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology
Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S
Publication Date: 2021

Variant appearance in text: SECISBP2: M515Q
PubMed Link: 35126314
Variant Present in the following documents:
  • Main text
  • fendo-12-803024.pdf
View BVdb publication page