Variant #0000314564 (NC_000003.11:g.14183203T>C, TMEM43(NM_024334.2):c.1111T>C)

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.14183203T>C
DNA change (hg38) g.14141703T>C
Published as TMEM43(NM_024334.2):c.1111T>C (p.Y371H)
ISCN -
DB-ID TMEM43_000064 See all 4 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) 0.0008 View details
Owner VKGL-NL_Utrecht
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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.*4238A>G r.(=) p.(=) -
TMEM43 NM_024334.2 -/. - c.1111T>C r.(?) p.(Tyr371His) -