Variant #0000000089 (NC_000001.10:g.155205499G>C, GBA(NM_000157.3):c.1361C>G)

Individual ID 00000048
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.155205499G>C
DNA change (hg38) g.155235708G>C
Published as -
ISCN -
DB-ID GBA_000007 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) Retrieve
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2011-04-06 16:20:25 +02:00 (CEST)
Date last edited 2020-10-09 07:56:13 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBA NM_000157.3 ?/. - c.1361C>G r.(?) p.(Pro454Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000048 DNA SEQ-NG - - ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1 14 Global Variome, with Curator vacancy