Variant #0000576192 (NC_000023.10:g.48207027C>G, SSX3(NM_021014.2):c.479G>C)

Chromosome X
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.48207027C>G
DNA change (hg38) g.48347592C>G
Published as SSX3(NM_021014.3):c.479G>C (p.(Gly160Ala))
ISCN -
DB-ID SSX3_000016
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) 0.00452 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SSX3 NM_021014.2 -?/. - c.479G>C r.(?) p.(Gly160Ala)