Variant #0000562902 (NC_000017.10:g.70119713A>C, SOX9(NM_000346.3):c.715A>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70119713A>C
DNA change (hg38) g.72123572A>C
Published as SOX9(NM_000346.3):c.715A>C (p.T239P, p.(Thr239Pro))
ISCN -
DB-ID SOX9_000029 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOX9 NM_000346.3 -?/. - c.715A>C r.(?) p.(Thr239Pro)