Variant #0000000081 (NC_000001.10:g.155205043A>C, GBA(NM_000157.3):c.1448T>G)
Individual ID |
00000003 |
Chromosome |
1 |
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.155205043A>C |
DNA change (hg38) |
g.155235252A>C |
Published as |
- |
ISCN |
- |
DB-ID |
GBA_000002 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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