Variant #0000673665 (NC_000003.11:g.113513818G>T, NM_001690.3:c.1088G>T (ATP6V1A))

Individual ID 00305970
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.113513818G>T
DNA change (hg38) g.113794971G>T
Published as -
ISCN -
DB-ID ATP6V1A_000003
Variant remarks ACMG PM2, PM6, PP2, PP3
Reference PubMed: Johannesen 2020
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-06 16:08:38 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6V1A NM_001690.3 +?/. - c.1088G>T r.(?) p.(Gly363Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307100 DNA SEQ;SEQ-NG - candidate gene panel ATP6V1A 1 Johan den Dunnen


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