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)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 5i c.516-2A>G r.spl p.? Parent #2 - pathogenic g.136219623T>C g.133352768T>C - - SURF1_000008 - - - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - LS - - Lactic acidosis, increased pyruate, seiuzre M - United States Caucasian/Asian - 0 - - 1 Inn-Chi Lee
+/? 5i c.516-2A>G r.spl p.? Parent #1 - pathogenic g.136219623T>C g.133352768T>C - - SURF1_000008 - - - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - LS - - Lactic acidosis, increased pyruate, seiuzre M - United States Caucasian/Asian - 0 - - 1 Inn-Chi Lee
+?/. - c.516-2A>G r.spl? p.? Unknown - likely pathogenic g.136219623T>C g.133352768T>C - - SURF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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