Variant #0000000015 (NC_000001.10:g.63872032T>C, ALG6(NM_013339.3):c.391T>C)

Individual ID 00000014, 00079989
Chromosome 1
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.63872032T>C
DNA change (hg38) g.63406361T>C
Published as -
ISCN -
DB-ID ALG6_000005 See all 10 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03039 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PRKAR1A NM_002734.4 +?/+? 9 c.806A>G r.(806a>g) p.(Asp269Gly) - - -
ALG6 NM_013339.3 ?/. 6 c.391T>C r.(?) p.(Tyr131His) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy
0000080068 DNA SEQ blood - - 2 Francesca Marta Elli