Variant #0000543563 (NC_000011.9:g.2418039C>T, CD81(NM_004356.3):c.654C>T)

Chromosome 11
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.2418039C>T
DNA change (hg38) g.2396809C>T
Published as CD81(NM_004356.3):c.654C>T (p.F218=)
ISCN -
DB-ID CD81_000017 See all 2 reported entries
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) 0.00066 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD81 NM_004356.3 -?/. - c.654C>T r.(?) p.(Phe218=)
TSSC4 NM_005706.2 -?/. - c.-5665C>T r.(?) p.(=)