Variant #0000309222 (NC_000003.11:g.14183197C>T, TMEM43(NM_024334.2):c.1105C>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.14183197C>T
DNA change (hg38) g.14141697C>T
Published as TMEM43(NM_024334.2):c.1105C>T (p.L369F)
ISCN -
DB-ID TMEM43_000063 See all 3 reported entries
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) 0.0001 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.*4244G>A r.(=) p.(=) -
TMEM43 NM_024334.2 -?/. - c.1105C>T r.(?) p.(Leu369Phe) -