Variant #0000086058 (NC_000002.11:g.202494114del, TMEM237(NM_001044385.2):c.709del)

Individual ID 00056063
Chromosome 2
Allele Parent #1
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.202494114del
DNA change (hg38) g.201629391del
Published as -
ISCN -
DB-ID TMEM237_000007 See all 2 reported entries
Variant remarks -
Reference PubMed: Watson 2016, Journal: Watson 2016
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 Christopher Watson
Database submission license No license selected
Created by Christopher Watson
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 +/. 9 c.709del r.(?) p.(Ala237Leufs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056019 DNA SEQ-NG - - - 1 Christopher Watson