NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser)Rat Genome Database

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Variant : CV308499 (NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser)) Homo sapiens

Symbol: CV308499
Name: NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser)
RGD ID: 11606316
Condition: Hyper-IgE syndrome [RCV000329927]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.5467C>T
LRG_196:g.232122C>T
NG_017007.1:g.232122C>T
NC_000009.12:g.441986C>T
NC_000009.11:g.441986C>T
LRG_196p1:p.Pro1823Ser
NP_982272.2:p.Pro1823Ser
NM_001193536.1:c.5263C>T
NP_001177387.1:p.Pro1723Ser
NM_203447.3:c.5467C>T
NM_001190458.2:c.5167C>T
NP_001180465.1:p.Pro1755Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh389441,986 - 441,986CLINVAR
GRCh379441,986 - 441,986CLINVAR
Cytogenetic Map99p24.3CLINVAR



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329927 CLINVAR
dbSNP (RS) rs766493394 CLINVAR
MedGen C3887645 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 611432 CLINVAR