SMN1 c.862_863delinsTA ;(p.R288*)

Variant ID: 5-70247795-AG-TA

NM_000344.3(SMN1):c.862_863delinsTA;(p.R288*)

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:

Palatal Soft Tissue Myxoma in a Patient with Carney Complex.

Head And Neck Pathology
Mariz, Bruno Augusto Linhares Almeida BALA; Tager, Elena María José Román EMJR; Fernandez, Carlos Cordón CC; de Almeida, Oslei Paes OP; Carlos, Roman R
Publication Date: 2021-09

Variant appearance in text: SMA: R288X
PubMed Link: 33089457
Variant Present in the following documents:
  • Main text
View BVdb publication page