Bibliome.ai browser hg19
Search
About
Stats
FAQ
GLA c.599A>C ;(p.Y200S)
Variant ID: X-100655694-T-G
NM_000169.2(
GLA
):c.599A>C;(p.Y200S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2021-10
Variant appearance in text: GLA: Tyr200Ser
PubMed Link:
33024316
Variant Present in the following documents:
41436_2020_Article_1000.pdf
View BVdb publication page
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2020-06
Variant appearance in text: GLA: Tyr200Ser
PubMed Link:
32203225
Variant Present in the following documents:
Main text
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: GLA: Y200S
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page