Genomic variant #0000298543

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.29553473C>T
DNA change (hg38) -
Published as NF1(NM_001042492.2):c.2022C>T (p.=)
ISCN -
DB-ID NF1_000991 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) 0.00877 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.2022C>T benign r.(?) p.(=) - - -
OMG NM_002544.4 -/. - c.*68554G>A benign r.(=) p.(=) - - -
EVI2B NM_006495.3 -/. - c.*77808G>A benign r.(=) p.(=) - - -
EVI2A NM_014210.3 -/. - c.*91848G>A benign r.(=) p.(=) - - -