Genomic variant #0000040442

Individual ID 00019943
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29654736C>T
DNA change (hg38) g.31327718C>T
Published as -
ISCN -
DB-ID NF1_000653 See all 118 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alessandro De Luca




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

ClassClinical     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
NF1 NM_000267.3 +/+ 38 pathogenic c.5425C>T r.(?) p.(Arg1809Cys) substitution missense -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019936 DNA SEQ Peripheral blood - NF1 1 Alessandro De Luca