Variant #0000193928 (NC_000002.11:g.202494451C>A, TMEM237(NM_001044385.2):c.677+1G>T)

Individual ID 00117500
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 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     
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     
0000117963 DNA;RNA SEQ; RT-PCR - - TMEM237 1 Lijia Huang