NF1
This page contains an overview of the genetic variation in the NF1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
NF1 gene and transcript details
Gene Name
neurofibromin 1
Gene Links
Ensembl: ENSG00000196712 -
Locus Reference Genomic: LRG_214
Genomic Location
Chromosome 17 : 29,422,328 - 29,701,173 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (8454 bases) | Protein (2818 aa) |
|---|---|---|
 |
ENST00000356175 | ENSP00000348498 |
 |
LRG_214t1 | LRG_214p1 |
 |
NM_000267.3 | |
 |
Summary of NF1 in Cardiomyopathies
NF1 variants in ExAC
Details of the protein-altering NF1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 613 | 0.00904 |
| Truncating | 26 | 0.00029 |
| Missense | 475 | 0.00694 |
| Inframe | 3 | 0.00006 |
| Splice Site | 109 | 0.00176 |