Individual #00205150

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LS
Owner name Inn-Chi Lee


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206179 DNA SEQ - - SURF1 2 Inn-Chi Lee



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Parent #2 +/? g.136218980C>T - - - SURF1_000004 - - - - Unknown - - - 0 - Inn-Chi Lee SURF1 - - - - - 8 NM_003172.3:c.769G>A - - r.(?) p.(Gly257Arg) - - - - - - - - - - - - - - - - - - -
9 Parent #1 +/? g.136219581_136219582del - 555_556delGA - SURF1_000003 - - - - Unknown - - - 0 - Inn-Chi Lee SURF1 - - - - - 6 NM_003172.3:c.555_556del - - r.(?) p.(Lys186Serfs*4) - - - - - - - - - - - - - - - - - - -
Legend