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F2 c.1241A>C ;(p.D414A)
Variant ID: 11-46749656-A-C
NM_000506.3(
F2
):c.1241A>C;(p.D414A)
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:
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
Jimd Reports
Gupta, Neerja N; Singh, Pawan Kumar PK; Kumar, Manoj M; Shastri, Shivaram S; Gulati, Sheffali S; Kumar, Atin A; Agarwala, Anuja A; Kapoor, Seema S; Nair, Mohandas M; Sapra, Savita S; Dubey, Sudhisha S; Singh, Ankur A; Kaur, Punit P; Kabra, Madhulika M
Publication Date: 2015
Variant appearance in text: F2: 1241A>C
PubMed Link:
25762492
Variant Present in the following documents:
Main text
View BVdb publication page