NF1 c.7181T>G ;(p.L2394R)

Variant ID: 17-29670145-T-G

NM_001042492.2(NF1):c.7181T>G;(p.L2394R)

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: 2021-06-03

Variant appearance in text: rs1135402899
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: 2021-12

Variant appearance in text: rs1135402899
PubMed Link: 34080803
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1631.pdf
View BVdb publication page