Variant #0000248616 (NC_000009.11:g.136505114A>G, DBH(NM_000787.3):c.486A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.136505114A>G
DNA change (hg38) g.133639992A>G
Published as DBH(NM_000787.3):c.486A>G (p.E162=)
ISCN -
DB-ID DBH_000002 See all 2 reported entries
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) 0.5732 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DBH NM_000787.3 -/. - c.486A>G r.(?) p.(Glu162=)