Variant #0000442420 (NC_000003.11:g.14173134C>T, NM_024334.2:c.352C>T (TMEM43))

Individual ID 00209966
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.14173134C>T
DNA change (hg38) g.14131634C>T
Published as -
ISCN -
DB-ID TMEM43_000046 See all 2 reported entries
Variant remarks r.352c>u/351_392del ratio 2:1
Reference unpublished, ARVD/C database 8385
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Paul van der Zwaag
Database submission license No license selected
Created by Paul van der Zwaag
Date created 2014-10-15 16:47:52 +02:00 (CEST)
Date last edited 2018-12-24 15:05:57 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TMEM43 NM_024334.2 ?/? 4 c.352C>T r.[352c>u,351_392del] p.[His118Tyr,His118_Arg1331del] -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211023 DNA;RNA RT-PCR;SEQ - - TMEM43 1 Paul van der Zwaag


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