Variant #0000000090 (NC_000001.10:g.155210420C>T, GBA(NM_000157.3):c.115+1G>A)

Individual ID 00000060
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.155210420C>T
DNA change (hg38) g.155240629C>T
Published as INTRON 2, IVS2+1G>A, CHR1:153477044G>A
ISCN -
DB-ID GBA_000008 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-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.115+1G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000060 DNA SEQ-NG - - ATP7B, CFTR, ENPP1, GBA, GLB1, NHLRC1, NPC2, NPHS1, SMPD1 9 Global Variome, with Curator vacancy