Variant #0000311889 (NC_000003.11:g.14170931G>A, NM_024334.2:c.32G>A (TMEM43))

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.14170931G>A
DNA change (hg38) g.14129431G>A
Published as TMEM43(NM_024334.3):c.32G>A (p.R11Q)
ISCN -
DB-ID TMEM43_000085
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) 2.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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 ?/. - c.32G>A r.(?) p.(Arg11Gln) -
CHCHD4 NM_144636.2 ?/. - c.-4886C>T r.(?) p.(=) -


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