Variant #0000000240 (NC_000011.9:g.6415463G>A, SMPD1(NM_000543.4):c.1522G>A)

Individual ID 00000035
Chromosome 11
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.6415463G>A
DNA change (hg38) g.6394233G>A
Published as -
ISCN -
DB-ID SMPD1_000101 See all 36 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) 0.19173 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMPD1 NM_000543.4 ?/. - c.1522G>A r.(?) p.(Gly508Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000035 DNA SEQ-NG - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1 17 Global Variome, with Curator vacancy