Variant #0000096562 (NC_000012.11:g.58190296_58190297del, TSFM(NM_001172696.1):c.971_972del)

Individual ID 00064766
Chromosome 12
Allele Unknown
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.58190296_58190297del
DNA change (hg38) g.57796513_57796514del
Published as -
ISCN -
DB-ID TSFM_000004
Variant remarks association with disease phenotype not proven
Reference PubMed: Neubauer 2017, Journal: Neubauer 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cordula Haas
Database submission license No license selected
Created by Cordula Haas
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_001172696.1 +?/. 7 c.971_972del r.(?) p.(Gln324Argfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064907 DNA SEQ-NG-I - - - 1 Cordula Haas