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Variant : CV672009 (NM_002578.5(PAK3):c.976G>C (p.Val326Leu)) Homo sapiens

Symbol: CV672009
Name: NM_002578.5(PAK3):c.976G>C (p.Val326Leu)
Condition: Microcephaly [RCV000844885]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2019
Review Status: criteria provided, single submitter
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.111192602G>C
NM_001128173.3:c.1021G>C
NM_001324327.2:c.1021G>C
NM_001324328.2:c.1021G>C
NM_001324329.2:c.1021G>C
NM_001324333.2:c.1021G>C
NM_001128172.2:c.1039G>C
NM_001128168.3:c.1084G>C
NM_001128166.2:c.976G>C
NM_001324325.2:c.976G>C
NM_001324326.2:c.976G>C
NM_001324330.2:c.976G>C
NM_001324331.2:c.976G>C
NM_001324332.2:c.976G>C
NM_001324334.2:c.976G>C
NM_002578.5:c.976G>C
NG_008288.2:g.253318G>C
NC_000023.10:g.110435830G>C
NR_136748.1:n.1151G>C
NR_136747.2:n.1405G>C
NP_001121638.1:p.Val326Leu
NP_001121639.1:p.Val326Leu
NP_001311254.1:p.Val326Leu
NP_001311255.1:p.Val326Leu
NP_001311259.1:p.Val326Leu
NP_001311260.1:p.Val326Leu
NP_001311261.1:p.Val326Leu
NP_001311263.1:p.Val326Leu
NP_002569.1:p.Val326Leu
NP_001121645.1:p.Val341Leu
NP_001311256.1:p.Val341Leu
NP_001311257.1:p.Val341Leu
NP_001311258.1:p.Val341Leu
NP_001311262.1:p.Val341Leu
NP_001121644.1:p.Val347Leu
NP_001121640.1:p.Val362Leu
NM_001128167.2:c.976G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,192,602 - 111,192,602CLINVAR
GRCh37X110,435,830 - 110,435,830CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormally small cranium; Abnormally small head; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of head; Decreased size of skull; Dull intelligence; Intellectual disability; Intellectual functioning disability; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Reduced head circumference; small calvarium; small cranium; Small head; Small head circumference; Small skull



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14746719
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.