Variant #0000320063 (NC_000003.11:g.14190057C>T, TMEM43(NM_024334.2):c.*6762C>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.14190057C>T
DNA change (hg38) g.14148557C>T
Published as XPC(NM_004628.4):c.2420+5G>A
ISCN -
DB-ID XPC_000002
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 ?/. - c.2420+5G>A r.spl? p.? -
TMEM43 NM_024334.2 ?/. - c.*6762C>T r.(=) p.(=) -