Variant #0000612056 (NC_000009.11:g.2077728G>A, SMARCA2(NM_003070.3):c.2136G>A)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2077728G>A
DNA change (hg38) g.2077728G>A
Published as SMARCA2(NM_003070.4):c.2136G>A (p.V712=)
ISCN -
DB-ID SMARCA2_000147
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) 0.00033 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 -?/. - c.2136G>A r.(?) p.(Val712=)