Full data view for gene LAMA4

Information The variants shown are described using the NM_001105206.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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     
-?/. - c.668G>A r.(?) p.(Arg223His) Unknown - likely benign g.112512888C>T g.112191686C>T LAMA4(NM_001105206.3):c.668G>A (p.R223H) - LAMA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668G>A r.(?) p.(Arg223His) Unknown - likely benign g.112512888C>T - LAMA4(NM_001105206.3):c.668G>A (p.R223H) - LAMA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668G>A r.(?) p.(Arg223His) Unknown - VUS g.112512888C>T - LAMA4(NM_001105206.3):c.668G>A (p.R223H) - LAMA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668G>A r.(?) p.(Arg223His) Unknown - VUS g.112512888C>T g.112191686C>T - - LAMA4_000108 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat30 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.