Variant #0000000660 (NC_000017.10:g.78086721C>A, NM_000152.3:c.1935C>A (GAA))

Individual ID 00000033
Chromosome 17
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.78086721C>A
DNA change (hg38) g.80112922C>A
Published as -
ISCN -
DB-ID GAA_000020 See all 61 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
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 2024-09-27 18:47:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 ?/. 14 c.1935C>A r.(?) p.(Asp645Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A 13 Global Variome, with Curator vacancy


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