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CREBBP c.5456G>T ;(p.C1819F)
Variant ID: 16-3779592-C-A
NM_004380.2(
CREBBP
):c.5456G>T;(p.C1819F)
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:
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
American Journal Of Medical Genetics. Part A
Musante, Luciana L; Faletra, Flavio F; Meier, Kolja K; Tomoum, Hoda H; Najarzadeh Torbati, Paria P; Blair, Edward E; North, Sally S; Gärtner, Jutta J; Diegmann, Susann S; Beiraghi Toosi, Mehran M; Ashrafzadeh, Farah F; Ghayoor Karimiani, Ehsan E; Murphy, David D; Murru, Flora Maria FM; Zanus, Caterina C; Magnolato, Andrea A; La Bianca, Martina M; Feresin, Agnese A; Girotto, Giorgia G; Gasparini, Paolo P; Costa, Paola P; Carrozzi, Marco M
Publication Date: 2022-09
Variant appearance in text: CREBBP: Cys1819Phe
PubMed Link:
35670379
Variant Present in the following documents:
AJMG-188-2652-s001.xlsx, sheet 3
View BVdb publication page
Menke-Hennekam Syndrome: A Literature Review and a New Case Report.
Children (Basel, Switzerland)
Sima, Aurora A; Smădeanu, Roxana Elena RE; Simionescu, Anca Angela AA; Nedelea, Florina F; Vlad, Andreea-Maria AM; Becheanu, Cristina C
Publication Date: 2022-05-22
Variant appearance in text: CREBBP: 5456G>T; Cys1819Phe
PubMed Link:
35626936
Variant Present in the following documents:
children-09-00759.pdf
View BVdb publication page