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 (large NGS studies) 1.0E-5 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBA NM_000157.3 ?/. - c.1448T>G r.(?) p.(Leu483Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000003 DNA SEQ-NG - - ACADM, CDH23, DPYD, ETFB, GBA, GLB1, HADHA, HESX1, IGHMBP2, NHLRC1, NPHS1, PKHD1, SERPINA1, SLC26A2 15 Global Variome, with Curator vacancy