PC c.797C>T ;(p.S266F)

Variant ID: 11-66637879-G-A

NM_001040716.1(PC):c.797C>T;(p.S266F)

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:

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04

Variant appearance in text: PC: 797C>T
PubMed Link: 34863234
Variant Present in the following documents:
  • 13023_2021_Article_2126.pdf
View BVdb publication page


Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04

Variant appearance in text: PC: 797C>T
PubMed Link: 34863234
Variant Present in the following documents:
  • 13023_2021_Article_2126.pdf
View BVdb publication page