Genomic variant #0000000137

Individual ID 00000033
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.216424275C>G
DNA change (hg38) g.216250933C>G
Published as -
ISCN -
DB-ID USH2A_000021 See all 16 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.06651 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
USH2A NM_206933.2 ?/. 12 c.2137G>C - r.(?) p.(Gly713Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A 13 LOVD-team, but with Curator vacancy