SI c.482A>G ;(p.K161R)

Variant ID: 3-164786511-T-C

NM_001041.3(SI):c.482A>G;(p.K161R)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical Syndrome.

Brain Sciences
Stefaniak, Urszula U; Malak, Roksana R; Mojs, Ewa E; Samborski, Włodzimierz W
Publication Date: 2022-03-15

Variant appearance in text: SI: 482A>G
PubMed Link: 35326346
Variant Present in the following documents:
  • brainsci-12-00390.pdf
View BVdb publication page


Engineering affinity agents for the detection of hemi-methylated CpG sites in DNA.

Molecular Systems Design & Engineering
Tarn, B E BE; Sung, K-J KJ; Sikes, H D HD
Publication Date: 2016-10-01

Variant appearance in text: SI: K161R
PubMed Link: 28580176
Variant Present in the following documents:
  • Main text
View BVdb publication page