Variant #0000352488 (NC_000009.11:g.136218829_136218830del, SURF1(NM_003172.3):c.845_846del)

Individual ID 00152532
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136218829_136218830del
DNA change (hg38) g.133351974_133351975del
Published as 845_846delCT
ISCN -
DB-ID SURF1_000025
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 IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SURF1 NM_003172.3 +/. - c.845_846del r.(?) p.(Ser282Cysfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153389 DNA SEQ - - - 2 IMGAG