Variant #0000513915 (NC_000002.11:g.202505638G>A, TMEM237(NM_001044385.2):c.52C>T)

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.202505638G>A
DNA change (hg38) g.201640915G>A
Published as TMEM237(NM_152388.3):c.28C>T (p.R10*), TMEM237(NM_152388.4):c.28C>T (p.R10*)
ISCN -
DB-ID TMEM237_000001 See all 18 reported entries
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) 6.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM237 NM_001044385.2 +/. - c.52C>T r.(?) p.(Arg18Ter)
MPP4 NM_033066.2 +/. - c.*4295C>T r.(=) p.(=)