PSEN1 c.709T>G ;(p.F237V)

Variant ID: 14-73659512-T-G

NM_000021.3(PSEN1):c.709T>G;(p.F237V)

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:

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Orphanet Journal Of Rare Diseases
Duan, Ruoyu R; Ji, Haoran H; Yan, Huifang H; Wang, Junyu J; Zhang, Yu Y; Zhang, Qian Q; Li, Dongxiao D; Cao, Binbin B; Gu, Qiang Q; Wu, Ye Y; Jiang, Yuwu Y; Li, Ming M; Wang, Jingmin J
Publication Date: 2022-03-28

Variant appearance in text: PS1: 709T>G
PubMed Link: 35346287
Variant Present in the following documents:
  • 13023_2022_Article_2267.pdf
View BVdb publication page