Screening #0000072408

Individual ID 00072253
Template DNA
Technique PCR;SEQ-NG
Tissue -
Remarks -
Variants found? 1
Owner name Jamie Zeegers


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CRYAB crystallin, alpha B 11 q22.3-q23.1 1 86 41 2018-11-11 CMD-1II, CTRCT-16;CTPP-2, MFM-2, myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
11 Parent #1 g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers CRYAB +?/. - - - - - 1 NM_001885.1:c.59C>G - - r.(?) p.(Pro20Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend