Variant #0000518151 (NC_000003.11:g.14190151G>T, TMEM43(NM_024334.2):c.*6856G>T)

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.14190151G>T
DNA change (hg38) g.14148651G>T
Published as XPC(NM_004628.4):c.2331C>A (p.P777=)
ISCN -
DB-ID TMEM43_000143
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) 6.0E-5 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.2331C>A r.(?) p.(Pro777=) -
TMEM43 NM_024334.2 -?/. - c.*6856G>T r.(=) p.(=) -