Genomic variant #0000440062

Individual ID 00208791
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70209949T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID DNA2_000005
Variant remarks not regarded causative for phenotype in patient, no second variante in DNA2 detected
Reference -
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 Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DNA2 NM_001080449.2 ?/. - c.775A>G ACMG: 3 r.(?) p.Met259Val



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209840 DNA SEQ-NG - - - 1 Andreas Laner