Genomic variant #0000256508

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119036769A>G
DNA change (hg38) -
Published as SLC18A2(NM_003054.6):c.1537A>G (p.S513G)
ISCN -
DB-ID SLC18A2_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC18A2 NM_003054.4 ?/. - c.1537A>G VUS r.(?) p.(Ser513Gly)
PDZD8 NM_173791.3 ?/. - c.*6010T>C VUS r.(=) p.(=)