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PCDH19 c.3312C>A ;(p.G1104=)
Variant ID: X-99551410-G-T
NM_001184880.1(
PCDH19
):c.3312C>A;(p.G1104=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A.
Epilepsy & Behavior Reports
Elwan, Menatalla M; Fowkes, Ross R; Lewis-Smith, David D; Winder, Amy A; Baker, Mark R MR; Thomas, Rhys H RH
Publication Date: 2022
Variant appearance in text: PCDH19: 3312C>A
PubMed Link:
35712061
Variant Present in the following documents:
main.pdf
View BVdb publication page
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: PCDH19: G1104G
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page