Variant #0000000656 (NC_000017.10:g.78078910del, NM_000152.3:c.525del (GAA))

Individual ID 00000076
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.78078910del
DNA change (hg38) g.80105111del
Published as -
ISCN -
DB-ID GAA_000028 See all 54 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 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 2025-06-09 14:52:08 +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 ?/. 2 c.525del r.(?) p.(Glu176Argfs*45) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000076 DNA SEQ-NG - - ATP7B, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2 18 Global Variome, with Curator vacancy


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