NM_002578.5(PAK3):c.*515delRat Genome Database
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Variant : CV353861 (NM_002578.5(PAK3):c.*515del) Homo sapiens

Symbol: CV353861
Name: NM_002578.5(PAK3):c.*515del
RGD ID: 11667019
Condition: Non-syndromic X-linked intellectual disability [RCV000406868]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PAK3  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001324326.2:c.*515del
NM_001324327.2:c.*515del
NM_001324328.2:c.*515del
NM_001324329.2:c.*515del
NM_002578.5:c.*515del
NG_008288.2:g.281678del
NC_000023.11:g.111220962del
NC_000023.10:g.110464190del
NR_136748.1:n.2438del
NM_001128166.2:c.*515del
NM_001128167.2:c.*515del
NM_001128168.3:c.*515del
NM_001128172.2:c.*515del
NM_001128173.3:c.*515del
NM_001324325.2:c.*515del
NM_001324330.2:c.*515del
NM_001324331.2:c.*515del
NM_001324332.2:c.*515del
NM_001324333.2:c.*515del
NM_001324334.2:c.*515del
NR_136747.2:n.2754del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,220,946 - 111,220,946CLINVAR
GRCh37X110,464,174 - 110,464,174CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Mental retardation, nonsyndromic, X-linked; X-linked non-specific intellectual disability



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000406868 CLINVAR
dbSNP (RS) rs67997504 CLINVAR
MedGen C3501611 CLINVAR
NCBI Gene PAK3 CLINVAR
OMIM 300142 CLINVAR