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CSMD1 c.6408C>G ;(p.N2136K)
Variant ID: 8-2975943-G-C
NM_033225.5(
CSMD1
):c.6408C>G;(p.N2136K)
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:
Exome sequencing study of 20 patients with high myopia.
Peerj
Wan, Ling L; Deng, Boling B; Wu, Zhengzheng Z; Chen, Xiaoming X
Publication Date: 2018
Variant appearance in text: CSMD1: 6408C>G; Asn2136Lys; rs778164827
PubMed Link:
30245926
Variant Present in the following documents:
Main text
peerj-06-5552.pdf
View BVdb publication page