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Variant : CV512563 (NM_002578.5(PAK3):c.307C>A (p.Gln103Lys)) Homo sapiens

Symbol: CV512563
Name: NM_002578.5(PAK3):c.307C>A (p.Gln103Lys)
Condition: Inborn genetic diseases [RCV000624388]
Clinical Significance: uncertain significance
Last Evaluated: 04/11/2017
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): NM_001324334.2:c.307C>A
NM_001128172.2:c.370C>A
NM_001128168.3:c.415C>A
NR_136748.1:n.482C>A
NP_001121638.1:p.Gln103Lys
NP_001121639.1:p.Gln103Lys
NP_001311255.1:p.Gln103Lys
NP_001311259.1:p.Gln103Lys
NP_001311260.1:p.Gln103Lys
NP_002569.1:p.Gln103Lys
NG_008288.2:g.208483C>A
NC_000023.11:g.111147767C>A
NP_001121640.1:p.Gln139Lys
NC_000023.10:g.110390995C>A
NM_001128168.1:c.415C>A
NM_001128166.2:c.307C>A
NM_001128167.2:c.307C>A
NM_001324325.2:c.307C>A
NM_001324326.2:c.307C>A
NM_001324330.2:c.307C>A
NM_001324331.2:c.307C>A
NM_002578.5:c.307C>A
NM_001128173.3:c.352C>A
NM_001324327.2:c.352C>A
NM_001324328.2:c.352C>A
NM_001324329.2:c.352C>A
NM_001324333.2:c.352C>A
NP_001311254.1:p.Gln103Lys
NP_001311261.1:p.Gln103Lys
NP_001311263.1:p.Gln103Lys
NP_001121645.1:p.Gln118Lys
NP_001311256.1:p.Gln118Lys
NP_001311257.1:p.Gln118Lys
NP_001311258.1:p.Gln118Lys
NP_001311262.1:p.Gln118Lys
NP_001121644.1:p.Gln124Lys
NM_001324332.2:c.307C>A
NR_136747.2:n.736C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,147,767 - 111,147,767CLINVAR
GRCh37X110,390,995 - 110,390,995CLINVAR
Cytogenetic MapXXq23CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13532640
Created: 2018-05-08
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.