Genomic variant #0000060250

Individual ID 00032972
Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55542984C>T
DNA change (hg38) g.54630424C>T
Published as -
ISCN -
DB-ID RP1_000025 See all 2 reported entries
Variant remarks present in controls
Reference Zhang 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Christina Zeitz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
RP1 NM_006269.1 -?/. 4 c.6542C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033040 DNA SEQ - - RP1 1 Christina Zeitz