Genomic variant #0000435579

Individual ID 00205139
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221751del
DNA change (hg38) g.133354896del
Published as -
ISCN -
DB-ID SURF1_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Inn-Chi Lee
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SURF1 NM_003172.3 +/? 3 c.169del r.(?) p.(Glu57Lysfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206168 DNA SEQ - - SURF1 1 Inn-Chi Lee