Variant #0000443095 (NC_000011.9:g.68678962T>C, IGHMBP2(NM_002180.2):c.602T>C)

Individual ID 00210460
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68678962T>C
DNA change (hg38) g.68911494T>C
Published as -
ISCN -
DB-ID IGHMBP2_000054 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs560096
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.77444 View details
Owner Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGHMBP2 NM_002180.2 -/. 5 c.602T>C r.(?) p.(Leu201Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211536 DNA SEQ - - IGHMBP2 17 Jorge Oliveira