Genomic variant #0000308248

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119027258C>T
DNA change (hg38) -
Published as SLC18A2(NM_003054.6):c.1186+11C>T
ISCN -
DB-ID SLC18A2_000007
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) 0.02514 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC18A2 NM_003054.4 -/. - c.1186+11C>T benign r.(=) p.(=)
PDZD8 NM_173791.3 -/. - c.*15521G>A benign r.(=) p.(=)