Variant #0000475054 (NC_000017.10:g.70120436A>C, SOX9(NM_000346.3):c.1438A>C)

Individual ID 00231471
Chromosome 17
Allele Parent #1
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.70120436A>C
DNA change (hg38) g.72124295A>C
Published as -
ISCN 46,XY
DB-ID SOX9_000020
Variant remarks -
Reference PubMed: Eggers 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOX9 NM_000346.3 ?/. - c.1438A>C r.(?) p.(Ile480Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232570 DNA SEQ-NG - 1031 gene panel SOX9 1 Johan den Dunnen