Genomic variant #0000325324

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29557952dup
DNA change (hg38) -
Published as NF1(NM_000267.3):c.3197+2_3197+3insA (p.?), NF1(NM_000267.3):c.3197+8_3197+9insA, NF1(NM_001042492.2):c.3197+2_3197+3insA
ISCN -
DB-ID NF1_001012 See all 3 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) Variant not found in online data sets
Owner VKGL-NL_Leiden




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.3197+9dup VUS r.(=) p.(=) - - -
OMG NM_002544.4 ?/. - c.*64081dup VUS r.(?) p.(=) - - -
EVI2B NM_006495.3 ?/. - c.*73335dup VUS r.(?) p.(=) - - -
EVI2A NM_014210.3 ?/. - c.*87375dup VUS r.(?) p.(=) - - -