Variant #0000220356 (NC_000017.10:g.29685479G>T, NF1(NM_000267.3):c.7908-19G>T)

Individual ID 00130344
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.29685479G>T
DNA change (hg38) g.31358461G>T
Published as -
ISCN -
DB-ID NF1_001112
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01976 View details
Owner Rick van Minkelen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
NF1 NM_000267.3 -/- 54i c.7908-19G>T r.(?) p.(=) substitution splicing affected -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000131182 DNA SEQ blood - NF1 1 Rick van Minkelen