Variant #0000193930 (NC_000002.11:g.202494451C>A, TMEM237(NM_001044385.2):c.677+1G>T)

Individual ID 00117502
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.202494451C>A
DNA change (hg38) g.201629728C>A
Published as -
ISCN -
DB-ID TMEM237_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Janecke 2004, PubMed: Huang 2011
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 Lijia Huang
Database submission license No license selected
Created by Lijia Huang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 +/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117965 DNA;RNA SEQ; RT-PCR - - TMEM237 1 Lijia Huang