Genomic variant #0000130006

Individual ID 00080808
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136223302_136223318del
DNA change (hg38) g.133356426_133356442del
Published as -
ISCN -
DB-ID SURF1_000018
Variant remarks -
Reference Trujillano 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 Daniel Trujillano
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SURF1 NM_003172.3 +?/. 1 c.19_35del r.(?) p.(Leu7Glyfs*47)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080920 DNA SEQ;SEQ-NG - - SURF1 1 Daniel Trujillano