Variant #0000269892 (NC_000011.9:g.2417911C>T, CD81(NM_004356.3):c.615C>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.2417911C>T
DNA change (hg38) g.2396681C>T
Published as CD81(NM_004356.3):c.615C>T (p.I205=)
ISCN -
DB-ID CD81_000008
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) 0.00011 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.615C>T r.(?) p.(Ile205=)
TSSC4 NM_005706.2 -?/. - c.-5793C>T r.(?) p.(=)