Genomic variant #0000298549

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29585354_29585356del
DNA change (hg38) -
Published as NF1(NM_000267.3):c.4111-10_4111-8delGTT, NF1(NM_001042492.2):c.4174-10_4174-8delTTG
ISCN -
DB-ID NF1_001030 See all 2 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) 0.00296 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
NF1 NM_000267.3 -/. - c.4111-8_4111-6del benign r.(=) p.(=) - - -
OMG NM_002544.4 -/. - c.*36673_*36675del benign r.(=) p.(=) - - -
EVI2B NM_006495.3 -/. - c.*45927_*45929del benign r.(=) p.(=) - - -
EVI2A NM_014210.3 -/. - c.*59967_*59969del benign r.(=) p.(=) - - -