Full data view for gene ALS2

Information The variants shown are described using the NM_020919.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.1640+1G>A r.spl p.? Both (homozygous) - pathogenic g.202619225C>T g.201754502C>T - - ALS2_000057 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.1640+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.202619225C>T g.201754502C>T - - ALS2_000057 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M9000066 PubMed: Hu 2019 family, 4 more affected individuals, first cousin parents - yes - Arab - - - - 4 Johan den Dunnen
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