Genomic variant #0000060188

Individual ID 00033114
Chromosome 6
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.72962456T>C
DNA change (hg38) g.72252753T>C
Published as -
ISCN -
DB-ID RIMS1_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00071 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RIMS1 NM_014989.5 ?/. 15i c.2699-8T>C - r.(spl?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033182 DNA SEQ;SEQ-NG-S - - ELOVL4, RIMS1 3 Kornelia Neveling