Variant #0000537771 (NC_000009.11:g.2060867C>T, SMARCA2(NM_003070.3):c.1573C>T)

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 VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
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)