Variant #0000394880 (NC_000009.11:g.?, SMARCA2(NM_003070.3):c.?)
Individual ID |
00174123 |
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.(Glu852Asp), 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
Screenings
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