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C2 c.218C>T ;(p.P73L)
Variant ID: 6-31895903-C-T
NM_000063.4(
C2
):c.218C>T;(p.P73L)
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:
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015
Variant appearance in text: rs137902889
PubMed Link:
26496393
Variant Present in the following documents:
pone.0140684.s004.xlsx, sheet 2
View BVdb publication page