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SI c.3343G>A ;(p.G1115R)
Variant ID: 3-164737470-C-T
NM_001041.3(
SI
):c.3343G>A;(p.G1115R)
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:
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Frontiers In Genetics
Maddirevula, Sateesh S; Shamseldin, Hanan E HE; Sirr, Amy A; AlAbdi, Lama L; Lo, Russell S RS; Ewida, Nour N; Al-Qahtani, Mashael M; Hashem, Mais M; Abdulwahab, Firdous F; Aboyousef, Omar O; Kaya, Namik N; Monies, Dorota D; Salem, May H MH; Al Harbi, Naffaa N; Aldhalaan, Hesham M HM; Alzaidan, Hamad H; Almanea, Hadeel M HM; Alsalamah, Abrar K AK; Al Mutairi, Fuad F; Ismail, Samira S; Abdel-Salam, Ghada M H GMH; Alhashem, Amal A; Asery, Ali A; Faqeih, Eissa E; AlQassmi, Amal A; Al-Hamoudi, Waleed W; Algoufi, Talal T; Shagrani, Mohammad M; Dudley, Aimée M AM; Alkuraya, Fowzan S FS
Publication Date: 2020
Variant appearance in text: SI: 3343G>A
PubMed Link:
33456446
Variant Present in the following documents:
Main text
fgene-11-580484.pdf
View BVdb publication page