Variant #0000513908 (NC_000002.11:g.202490843dup, TMEM237(NM_001044385.2):c.1066dup)

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.202490843dup
DNA change (hg38) g.201626120dup
Published as TMEM237(NM_152388.4):c.1042dupC (p.Q348Pfs*24)
ISCN -
DB-ID TMEM237_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 +/. - c.1066dup r.(?) p.(Gln356ProfsTer24)