Variant #0000612054 (NC_000009.11:g.2056780A>G, SMARCA2(NM_003070.3):c.1282A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2056780A>G
DNA change (hg38) g.2056780A>G
Published as SMARCA2(NM_003070.4):c.1282A>G (p.M428V)
ISCN -
DB-ID SMARCA2_000145
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ?/. - c.1282A>G r.(?) p.(Met428Val)