Variant #0001041727 (NC_000017.10:g.29482997dup, NC_000017.10(NM_000267.3):c.61-4dup (NF1))

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.29482997dup
DNA change (hg38) -
Published as NF1(NM_001042492.3):c.61-4dup
ISCN -
DB-ID EVI2A_000071
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     
NF1 NM_000267.3 -/. - c.61-4dup r.spl? p.? - - -
NF1 NM_001042492.3 -/. - c.61-4dup r.spl? p.? - - -
OMG NM_002544.4 -/. - c.*139038dup r.(?) p.(=) - - -
EVI2B NM_006495.3 -/. - c.*148292dup r.(?) p.(=) - - -
EVI2A NM_014210.3 -/. - c.*162332dup r.(?) p.(=) - - -


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