Genomic variant #0000629544

Individual ID 00274353
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.54684518_54684524del
DNA change (hg38) g.54180801_54180807del
Published as -
ISCN -
DB-ID TMEM8C_000005 See all 4 reported entries
Variant remarks -
Reference PubMed: Johansen 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MN1 NM_002430.2 +/. - c.820_826del pathogenic (recessive) r.(?) p.(Gly274Profs*47)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275513 DNA SEQ;SEQ-NG - WES MBOAT7 1 Johan den Dunnen