Screening #0000081861

Individual ID 00081732
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FGFR1 fibroblast growth factor receptor 1 8 p12 1 94 76 2019-05-03 ECCL, HH-2, HRTFDS, ID, OGD, Pfeiffer, TRIGNO-1, Jackson-Weiss syndrome
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 7 p12.1 1 54 29 2019-02-20 HH-16



Variants found

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     
7 Unknown +/. g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen SEMA3A - - - - - 11 NM_006080.2:c.1303G>A - - r.(?) p.(Val435Ile) - - - - - - - - - - - - - - - - - - -
8 Unknown +/. g.38271797C>K g.38414279C>K G687R - FGFR1_000004 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - 0 - Johan den Dunnen FGFR1 - - - - - 16 NM_023110.2:c.2059G>M - - r.(?) p.(Gly687Arg) - - - - - - - - - - - - - - - - - - -
Legend