Variant #0000621191 (NC_000003.11:g.14189479C>T, TMEM43(NM_024334.2):c.*6184C>T)

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.14189479C>T
DNA change (hg38) g.14147979C>T
Published as XPC(NM_004628.4):c.2443G>A (p.E815K)
ISCN -
DB-ID TMEM43_000148
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 ?/. - c.2443G>A r.(?) p.(Glu815Lys) -
TMEM43 NM_024334.2 ?/. - c.*6184C>T r.(=) p.(=) -