SECISBP2 c.1698T>A ;(p.S566R)

Variant ID: 9-91963089-T-A

NM_024077.3(SECISBP2):c.1698T>A;(p.S566R)

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:

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

International Journal Of Molecular Sciences
Li, Menglin M; Li, Zhuo Z; Chen, Miaomiao M; Hu, Zhiqing Z; Zhou, Miaojin M; Wu, Lingqian L; Zhang, Chunhua C; Liang, Desheng D
Publication Date: 2023-01-02

Variant appearance in text: SBP2: 1698T>A
PubMed Link: 36614229
Variant Present in the following documents:
  • Main text
  • ijms-24-00786.pdf
View BVdb publication page