Bibliome.ai browser hg19
Search
About
Stats
FAQ
IL6 c.24C>T ;(p.A8=)
Variant ID: 7-22767067-C-T
NM_000600.3(
IL6
):c.24C>T;(p.A8=)
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: Ala8Ala
PubMed Link:
33208168
Variant Present in the following documents:
13023_2020_1608_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page