Variant #0000193931 (NC_000002.11:g.202493952C>T, TMEM237(NM_001044385.2):c.869+1G>A)

Individual ID 00117503
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.202493952C>T
DNA change (hg38) g.201629229C>T
Published as -
ISCN -
DB-ID TMEM237_000006 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anas M Alazami
Database submission license No license selected
Created by Anas M Alazami
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 +/+ 9i c.869+1G>A r.678_869del p.Met227_Arg290del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117966 DNA;RNA PCR;RT-PCR;SEQ - - TMEM237 2 Anas M Alazami