Variant #0000325217 (NC_000017.10:g.15878486C>T, TTC19(NM_017775.3):c.-24677C>T)

Chromosome 17
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.15878486C>T
DNA change (hg38) g.15975172C>T
Published as ADORA2B(NM_000676.2):c.829C>T (p.(Leu277Phe))
ISCN -
DB-ID ADORA2B_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADORA2B NM_000676.2 ?/. - c.829C>T r.(?) p.(Leu277Phe)
ZSWIM7 NM_001042697.1 ?/. - c.*2875G>A r.(=) p.(=)
TTC19 NM_017775.3 ?/. - c.-24677C>T r.(?) p.(=)