Variant #0000132212 (NC_000001.10:g.92327108C>T, TGFBR3(NM_001195684.1):c.-20G>A)

Individual ID 00081427
Chromosome 1
Allele Unknown
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.92327108C>T
DNA change (hg38) g.91861551C>T
Published as -
ISCN -
DB-ID TGFBR3_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Xiaochen Qu
Database submission license No license selected
Created by Xiaochen Qu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TGFBR3 NM_001195684.1 ?/. 3 c.-20G>A r.(-20g>a) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081541 DNA SEQ-NG blood - TGFBR3 1 Xiaochen Qu