Full data view for gene SURF1

Information The variants shown are described using the NM_003172.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. 8i c.833+1G>A - r.spl? p.? Both (homozygous) g.136218915C>T g.133352060C>T g.4716G>A - SURF1_000011 - - - - Germline - - - 0 - DNA SEQ - - LS - - leighs (SURF1) - - - - - 0 - - 1 Sudha Kohli
+/? 8i c.833+1G>A - r.spl p.? Both (homozygous) g.136218915C>T - - - SURF1_000011 - - - - Unknown - - - 0 - RNA RT-PCR - - LS - - - - - - - - 0 - - 1 Inn-Chi Lee
+/? 8i c.833+1G>A - r.spl p.? Both (homozygous) g.136218915C>T - - - SURF1_000011 - - - - Unknown - - - 0 - DNA SEQ - - LS - - - F - United States - - 0 - - 1 Inn-Chi Lee
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