Variant #0000007036 (NC_000023.10:g.65824986C>T, EDA2R(NM_021783.3):c.170G>A)

Individual ID 00000208
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.65824986C>T
DNA change (hg38) g.66605144C>T
Published as -
ISCN -
DB-ID EDA2R_000004 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.79474 View details
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EDA2R NM_021783.3 ?/. - c.170G>A r.(?) p.(Arg57Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000209 DNA SEQ-NG-I - - - 6369 Yu Sun