Variant #0000018849 (NC_000009.11:g.2060768T>C, SMARCA2(NM_003070.3):c.1522-48T>C)

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2060768T>C
DNA change (hg38) g.2060768T>C
Published as -
ISCN -
DB-ID SMARCA2_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.15165 View details
Owner Gijs Santen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ?/? - c.1522-48T>C r.(=) p.(=)