Genomic variant #0000560950

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.29661949A>T
DNA change (hg38) -
Published as NF1(NM_000267.3):c.5843A>T (p.(Gln1948Leu), p.(Gln1969Leu))
ISCN -
DB-ID EVI2A_000028
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) 0.00031 View details
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.5843A>T likely benign r.(?) p.(Gln1948Leu) - - -
OMG NM_002544.4 -?/. - c.-37782T>A likely benign r.(?) p.(=) - - -
EVI2B NM_006495.3 -?/. - c.-20974T>A likely benign r.(?) p.(=) - - -
EVI2A NM_014210.3 -?/. - c.-13447T>A likely benign r.(?) p.(=) - - -