Variant #0000011347 (NC_000001.10:g.943468T>C)

Individual ID 00000209
Chromosome 1
Allele Both (homozygous)
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.943468T>C
DNA change (hg38) g.1008088T>C
Published as -
ISCN -
DB-ID chr1_000226 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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

Stop! No variants on transcripts found!



Screenings


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Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun