Variant #0000726645 (NC_000017.10:g.70119992G>A, NM_000346.3:c.994G>A (SOX9))

Chromosome 17
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.70119992G>A
DNA change (hg38) -
Published as SOX9(NM_000346.3):c.994G>A (p.(Gly332Ser))
ISCN -
DB-ID SOX9_000048
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOX9 NM_000346.3 ?/. - c.994G>A r.(?) p.(Gly332Ser)


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