Variant #0000394884 (NC_000009.11:g.?, SMARCA2(NM_003070.3):c.?)

Individual ID 00174127
Chromosome 9
Allele Parent #1
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.?
DNA change (hg38) -
Published as p.(Phe903Leu), not specified
ISCN -
DB-ID PTCH1_000000 See all 19 reported entries
Variant remarks -
Reference PubMed: Sousa SB 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ?/. - c.? r.(?) p.(Phe903Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175017 DNA SEQ - - SMARCA2 1 Julia Lopez