CREBBP c.7218dup ;(p.A2407Cfs*40)

Variant ID: 16-3777829-C-CA

NM_004380.2(CREBBP):c.7218dup;(p.A2407Cfs*40)

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:

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Annals Of Pediatric Endocrinology & Metabolism
Son, Hyun Woo HW; Lee, Jeong Eun JE; Oh, Seung Hwan SH; Keum, Changwon C; Chung, Woo Yeong WY
Publication Date: 2020-06

Variant appearance in text: CREBBP: 7218dupT
PubMed Link: 32615693
Variant Present in the following documents:
  • Main text
View BVdb publication page