Genomic variant #0000298553

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.29653237G>A
DNA change (hg38) g.31326219G>A
Published as NF1(NM_000267.3):c.5172G>A (p.K1724=), NF1(NM_001042492.2):c.5235G>A (p.K1745=)
ISCN -
DB-ID NF1_001049 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00354 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
NF1 NM_000267.3 -/. - c.5172G>A r.(?) p.(Lys1724=) - - -
OMG NM_002544.4 -/. - c.-29070C>T r.(?) p.(=) - - -
EVI2B NM_006495.3 -/. - c.-12262C>T r.(?) p.(=) - - -
EVI2A NM_014210.3 -/. - c.-4735C>T r.(?) p.(=) - - -