Genomic variant #0000471104

Individual ID 00228779
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221597C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID SURF1_000036
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Uniparental disomy, paternal allele
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Wenjuan Qiu




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SURF1 NM_003172.3 +/. - c.241-1G>C pathogenic r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229868 DNA SEQ-NG - - SURF1 1 Wenjuan Qiu