Variant #0000309220 (NC_000003.11:g.14183150T>C, TMEM43(NM_024334.2):c.1058T>C)

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.14183150T>C
DNA change (hg38) g.14141650T>C
Published as TMEM43(NM_024334.2):c.1058T>C (p.F353S)
ISCN -
DB-ID TMEM43_000081 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 0
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.*4291A>G r.(=) p.(=) -
TMEM43 NM_024334.2 ?/. - c.1058T>C r.(?) p.(Phe353Ser) -