Genomic variant #0000022938

Individual ID 00004108
Chromosome 7
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111051909_111199870del
DNA change (hg38) g.111411853_111559814del
Published as -
ISCN -
DB-ID IMMP2L_000003
Variant remarks -
Reference PubMed: Bertelsen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Birgitte Bertelsen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMMP2L NM_032549.3 +?/. 1i_3i c.-3+2039_239+75387del r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004032 DNA arrayCNV;PCRq - - IMMP2L 1 Birgitte Bertelsen