NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)Rat Genome Database
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Variant : CV614550 (NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)) Homo sapiens

Symbol: CV614550
Name: NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)
RGD ID: 14399308
Condition: Intellectual disability [RCV000768415]
Clinical Significance: likely pathogenic
Last Evaluated: 04/12/2019
Review Status: no assertion criteria provided
Related Genes: PAK3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.111196503G>A
NP_002569.1:p.Gly424Arg
NR_136747.2:n.1699G>A
NG_008288.2:g.257219G>A
NM_001324325.2:c.1270G>A
NM_001324326.2:c.1270G>A
NM_001324330.2:c.1270G>A
NM_001324331.2:c.1270G>A
NM_001324332.2:c.1270G>A
NM_001128173.3:c.1315G>A
NM_001324327.2:c.1315G>A
NM_001324328.2:c.1315G>A
NM_001324329.2:c.1315G>A
NM_001324333.2:c.1315G>A
NM_001128172.2:c.1333G>A
NP_001121638.1:p.Gly424Arg
NP_001121639.1:p.Gly424Arg
NP_001311254.1:p.Gly424Arg
NP_001311255.1:p.Gly424Arg
NP_001311260.1:p.Gly424Arg
NP_001311257.1:p.Gly439Arg
NP_001311258.1:p.Gly439Arg
NP_001311262.1:p.Gly439Arg
NP_001121644.1:p.Gly445Arg
NM_001324334.2:c.1270G>A
NM_002578.5:c.1270G>A
NM_001128168.3:c.1378G>A
NR_136748.1:n.1445G>A
NP_001311259.1:p.Gly424Arg
NP_001311261.1:p.Gly424Arg
NP_001311263.1:p.Gly424Arg
NP_001121645.1:p.Gly439Arg
NP_001311256.1:p.Gly439Arg
NM_001128166.2:c.1270G>A
NM_001128167.2:c.1270G>A
NP_001121640.1:p.Gly460Arg
NC_000023.10:g.110439731G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,196,503 - 111,196,503CLINVAR
GRCh37X110,439,731 - 110,439,731CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Dull intelligence; Intellectual functioning disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000768415 CLINVAR
dbSNP (RS) rs1569459580 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene PAK3 CLINVAR
OMIM 300142 CLINVAR
SNOMED CT 228156007 CLINVAR