Variant #0000518141 (NC_000003.11:g.14183270G>A, TMEM43(NM_024334.2):c.1178G>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.14183270G>A
DNA change (hg38) g.14141770G>A
Published as TMEM43(NM_024334.2):c.1178G>A (p.R393Q, p.(Arg393Gln))
ISCN -
DB-ID TMEM43_000138 See all 2 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) 1.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 ?/. - c.*4171C>T r.(=) p.(=) -
TMEM43 NM_024334.2 ?/. - c.1178G>A r.(?) p.(Arg393Gln) -