IL6 c.199C>T ;(p.L67=)

Variant ID: 7-22767242-C-T

NM_000600.3(IL6):c.199C>T;(p.L67=)

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:

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: HSF: 199C>T; Leu67Leu
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 5
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page