Variant #0000079572 (NC_000009.11:g.2060867C>T, SMARCA2(NM_003070.3):c.1573C>T)

Individual ID 00050647
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2060867C>T
DNA change (hg38) g.2060867C>T
Published as -
ISCN -
DB-ID SMARCA2_000057 See all 2 reported entries
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ./. - c.1573C>T r.(?) p.(Arg525Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050592 DNA SEQ;SEQ-NG-I - - SMARCA2 1 Johan den Dunnen