Genomic variant #0000000019

Individual ID 00000018, 00017067, 00080149
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 8 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02922 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PRKAR1A NM_002734.4 +?/+? 11 c.1003C>T - r.(1003c>u) p.(Arg335Cys) - - -
ALG6 NM_013339.3 ?/. 6 c.391T>C - r.(?) p.(Tyr131His) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000018 DNA SEQ-NG - - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 15 LOVD-team, but with Curator vacancy
0000080243 DNA SEQ blood - - 2 Francesca Marta Elli