Variant #0000518144 (NC_000003.11:g.14183303C>T, TMEM43(NM_024334.2):c.*8C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14183303C>T
DNA change (hg38) g.14141803C>T
Published as TMEM43(NM_024334.2):c.*8C>T
ISCN -
DB-ID TMEM43_000140
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) 0.00052 View details
Owner VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
XPC NM_004628.4 -/. - c.*4138G>A r.(=) p.(=) -
TMEM43 NM_024334.2 -/. - c.*8C>T r.(=) p.(=) -