Variant #0000313745 (NC_000003.11:g.14187482T>G, TMEM43(NM_024334.2):c.*4187T>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14187482T>G
DNA change (hg38) g.14145982T>G
Published as XPC(NM_004628.4):c.2782A>C (p.K928Q)
ISCN -
DB-ID XPC_000001
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) 0.00055 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 -?/. - c.2782A>C r.(?) p.(Lys928Gln) -
TMEM43 NM_024334.2 -?/. - c.*4187T>G r.(=) p.(=) -