Genomic variant #0000060413

Individual ID 00033091
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46719498C>T
DNA change (hg38) g.46860063C>T
Published as -
ISCN -
DB-ID RP2_000001 See all 6 reported entries
Variant remarks not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02225 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RP2 NM_006915.2 -/. 3 c.844C>T - r.(?) p.(Arg282Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033159 DNA SEQ;SEQ-NG-S - - CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 Kornelia Neveling