PC c.1562G>C ;(p.S521T)

Variant ID: 11-66620259-C-G

NM_001040716.1(PC):c.1562G>C;(p.S521T)

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:

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics
Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS
Publication Date: 2019-01-06

Variant appearance in text: PC: 1562G>C
PubMed Link: 30612563
Variant Present in the following documents:
  • Main text
View BVdb publication page