CP c.1241_1242insGAAT ;(p.R415Nfs*8)

Variant ID: 3-148919995-T-TATTC

NM_000096.3(CP):c.1241_1242insGAAT;(p.R415Nfs*8)

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:

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jimd Reports
Jilani, Abdulhakim A; Matviychuk, Diana D; Blaser, Susan S; Dyack, Sarah S; Mathieu, Jean J; Prasad, Asuri N AN; Prasad, Chitra C; Kyriakopoulou, Lianna L; Mercimek-Andrews, Saadet S
Publication Date: 2019-11

Variant appearance in text: CP: 1241_1242insGAAT
PubMed Link: 31741823
Variant Present in the following documents:
  • Main text
View BVdb publication page