Genomic variant #0000000267

Individual ID 00000018
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6415463G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SMPD1_000101 See all 37 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.19809 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMPD1 NM_000543.3 ?/. - c.1522G>A - r.(?) p.(Gly508Arg)



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