Genomic variant #0000435594

Individual ID 00205152
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.136218956_136218957del
DNA change (hg38) -
Published as 792_793delAG
ISCN -
DB-ID SURF1_000017
Variant remarks protein change predicted from RNA
Reference Nesbitt et al., submitted
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 Carl Fratter




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SURF1 NM_003172.3 +/? 8 c.792_793del - r.792_793del p.Arg264Serfs*27



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206181 DNA;RNA RT-PCR;SEQ - - SURF1 1 Carl Fratter