Variant #0000311878 (NC_000003.11:g.14183312G>A, TMEM43(NM_024334.2):c.*17G>A)

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.14183312G>A
DNA change (hg38) g.14141812G>A
Published as TMEM43(NM_024334.2):c.*17G>A
ISCN -
DB-ID TMEM43_000089
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 ?/. - c.*4129C>T r.(=) p.(=) -
TMEM43 NM_024334.2 ?/. - c.*17G>A r.(=) p.(=) -