Variant #0000332535 (NC_000009.11:g.2033061C>A, SMARCA2(NM_003070.3):c.335C>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.2033061C>A
DNA change (hg38) g.2033061C>A
Published as SMARCA2(NM_003070.3):c.335C>A (p.(Pro112Gln))
ISCN -
DB-ID SMARCA2_000113
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 -?/. - c.335C>A r.(?) p.(Pro112Gln)