Variant #0000000846 (NC_000002.11:g.202591523G>T, ALS2(NM_020919.3):c.3046C>A)

Individual ID 00000038
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.202591523G>T
DNA change (hg38) g.201726800G>T
Published as -
ISCN -
DB-ID ALS2_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALS2 NM_020919.3 ?/. 18 c.3046C>A r.(?) p.(Pro1016Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000038 DNA SEQ-NG - - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 9 Global Variome, with Curator vacancy