CALR c.3G>C ;(p.M1?)

Variant ID: 19-13049496-G-C

NM_004343.3(CALR):c.3G>C;(p.M1?)

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:

Visual perception and macular integrity in non-classical CLN2 disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Atiskova, Yevgeniya Y; Wildner, Jan J; Wibbeler, Eva E; Nickel, Miriam M; Spitzer, Martin Stephan MS; Schwering, Christoph C; Schulz, Angela A; Dulz, Simon S
Publication Date: 2022-11

Variant appearance in text: CRT: 3G>C
PubMed Link: 35652945
Variant Present in the following documents:
  • 417_2022_Article_5662.pdf
View BVdb publication page