Variant #0000793981 (NC_000002.11:g.202493952C>T, TMEM237(NM_001044385.2):c.869+1G>A)

Individual ID 00379586
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.202493952C>T
DNA change (hg38) -
Published as c.869+1G>A
ISCN -
DB-ID TMEM237_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: alazami-2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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.spl? p.M227_R290del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000380785 DNA;RNA PCR;SEQ;RT-PCR blood - TMEM237 1 LOVD