Variant #0000442411 (NC_000003.11:g.14170950T>G, NM_024334.2:c.51T>G (TMEM43))

Individual ID 00209957
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14170950T>G
DNA change (hg38) g.14129450T>G
Published as -
ISCN -
DB-ID TMEM43_000037
Variant remarks -
Reference unpublished, ARVD/C database 8785
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 -/- 2 c.51T>G r.(?) p.(Val17=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211014 DNA SEQ - - TMEM43 1 Paul van der Zwaag


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