Genomic variant #0000249403

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29685624A>G
DNA change (hg38) -
Published as NF1(NM_000267.3):c.8034A>G (p.Q2678=)
ISCN -
DB-ID NF1_002477
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) Variant not found in online data sets
Owner VKGL-NL




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.8034A>G likely benign r.(?) p.(=) - - -
OMG NM_002544.4 -?/. - c.-61457T>C likely benign r.(?) p.(=) - - -
EVI2B NM_006495.3 -?/. - c.-44649T>C likely benign r.(?) p.(=) - - -
EVI2A NM_014210.3 -?/. - c.-37122T>C likely benign r.(?) p.(=) - - -