Genomic variant #0000407943

Individual ID 00183045
Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.60714850G>T
DNA change (hg38) g.62139794G>T
Published as NM_002792.2:c.335C>A (Ala112Asp)
ISCN -
DB-ID PSMA7_000003
Variant remarks candidate variant
Reference PubMed: de Ligt 2012
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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     
PSMA7 NM_002792.3 ./. - c.335C>A r.(?) p.(Ala112Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184005 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen