Genomic variant #0000560827

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29546035C>T
DNA change (hg38) -
Published as NF1(NM_001042492.2):c.1540C>T (p.Gln514*)
ISCN -
DB-ID NF1_000073 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 -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




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.1540C>T pathogenic r.(?) p.(Gln514*) - - -
OMG NM_002544.4 +/. - c.*75992G>A pathogenic r.(=) p.(=) - - -
EVI2B NM_006495.3 +/. - c.*85246G>A pathogenic r.(=) p.(=) - - -
EVI2A NM_014210.3 +/. - c.*99286G>A pathogenic r.(=) p.(=) - - -