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NF1 c.481_487del ;(p.L161Nfs*2)
Variant ID: 17-29496906-TAGGTTAC-T
NM_001042492.2(
NF1
):c.481_487del;(p.L161Nfs*2)
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:
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-12
Variant appearance in text: NF1: 481_487del; Leu161Asnfs*2
PubMed Link:
34080803
Variant Present in the following documents:
Main text
MGG3-9-e1631.pdf
View BVdb publication page
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-06-03
Variant appearance in text: NF1: 481_487del; Leu161Asnfs*2
PubMed Link:
34080803
Variant Present in the following documents:
Main text
MGG3-9-e1631.pdf
View BVdb publication page