Variant #0000878428 (NC_000007.13:g.141445301G>A, SSBP1(NM_003143.2):c.320G>A)

Individual ID 00417328
Chromosome 7
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.141445301G>A
DNA change (hg38) g.141745501G>A
Published as -
ISCN -
DB-ID SSBP1_000002
Variant remarks -
Reference PubMed: Del Doto 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohamed Selhane
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Mohamed Selhane
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SSBP1 NM_003143.2 +/. - c.320G>A r.(?) p.(Arg107Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000418620 DNA SEQ-NG - - SSBP1 1 Mohamed Selhane