Variant #0000703906 (NC_000005.9:g.135394872C>A, TGFBI(NM_000358.2):c.1772C>A)

Individual ID 00319928
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.135394872C>A
DNA change (hg38) g.136059183C>A
Published as -
ISCN -
DB-ID TGFBI_000247
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yahya Benbouchta
Database submission license No license selected
Created by Yahya Benbouchta
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TGFBI NM_000358.2 ?/. 10 c.1772C>A r.(?) p.(Ser591Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321110 DNA;protein SEQ;SEQ-NG-I - - TGFBI 1 Yahya Benbouchta