Genomic variant #0000086595

Individual ID 00056398
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.138447771C>T
DNA change (hg38) g.138763026C>T
Published as IVS6-1G>A
ISCN -
DB-ID ATP6V0A4_000004 See all 2 reported entries
Variant remarks in OMIM erroneously linked to rs587776617
Reference PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6V0A4 NM_020632.2 +/. 5i c.292-1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056358 DNA SEQ - - ATP6V0A4 1 Johan den Dunnen