Variant #0000647298 (NC_000012.11:g.124197115G>C, NM_012463.3:c.3G>C (ATP6V0A2))

Individual ID 00289442
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.124197115G>C
DNA change (hg38) g.123712568G>C
Published as -
ISCN -
DB-ID ATP6V0A2_000049
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Carmela Fusco
Database submission license No license selected
Created by Carmela Fusco
Date created 2020-03-11 10:43:26 +01:00 (CET)
Date last edited 2020-07-03 12:56:47 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6V0A2 NM_012463.3 +?/. 1 c.3G>C r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290610 DNA SEQ-NG Blood - ATP6V0A2 2 Carmela Fusco


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.