Genomic variant #0000048000

Individual ID 00025125
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.38682843C>T
DNA change (hg38) g.38192203C>T
Published as -
ISCN -
DB-ID SIPA1L3_000003 See all 4 reported entries
Variant remarks -
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 Inst.Human Genetics - Heidelberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SIPA1L3 NM_015073.1 +/. 17 c.4489C>T - r.(?) p.(Arg1497*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025128 DNA SEQ-NG Blood - - 4 Inst.Human Genetics - Heidelberg