RGD:407452309 Rat Genome Database
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Summary
ClinVar Data
Variant Details
Variant Samples
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Variant: RGD:407452309 - Homo sapiens
RGD ID:
407452309
ClinVar ID:
CV3477661
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
ATG13
Reference Nucleotide:
C
Variant Nucleotide:
T
Position
Assembly
Chr
Position
GRCh37
11
46,679,129
GRCh38
11
46,657,579
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001205120.2:c.652C>T
NM_001205121.2:c.652C>T
NM_001346311.2:c.652C>T
NM_001346312.2:c.652C>T
NM_001346313.2:c.652C>T
NM_001346314.2:c.652C>T
NM_001346315.2:c.652C>T
NM_001346316.2:c.652C>T
NM_001346317.2:c.652C>T
NM_001346318.2:c.652C>T
NM_001346319.2:c.652C>T
NM_014741.5:c.652C>T
NM_001346357.2:c.67C>T
NM_001346358.2:c.67C>T
NM_001346359.2:c.67C>T
NM_001346360.2:c.67C>T
NP_001136145.1:p.Arg218Cys
NP_001192048.1:p.Arg218Cys
NP_001192049.1:p.Arg218Cys
NP_001333240.1:p.Arg218Cys
NP_001333241.1:p.Arg218Cys
NP_001333242.1:p.Arg218Cys
NP_001333243.1:p.Arg218Cys
NP_001333244.1:p.Arg218Cys
NP_001333245.1:p.Arg218Cys
NP_001333246.1:p.Arg218Cys
NP_001333247.1:p.Arg218Cys
NP_001333248.1:p.Arg218Cys
NP_001333249.1:p.Arg218Cys
NP_001333250.1:p.Arg218Cys
NP_001333251.1:p.Arg218Cys
NP_001333252.1:p.Arg218Cys
NP_001333253.1:p.Arg218Cys
NP_001333254.1:p.Arg218Cys
NP_001333255.1:p.Arg218Cys
NP_001333256.1:p.Arg218Cys
NP_001333257.1:p.Arg218Cys
NP_001333258.1:p.Arg218Cys
NP_001333288.1:p.Arg23Cys
NP_001333289.1:p.Arg23Cys
NM_001346320.2:c.652C>T
NM_001205122.2:c.415C>T
NM_001142673.3:c.652C>T
NM_001205119.2:c.652C>T
NM_001346321.2:c.652C>T
NM_001346322.2:c.652C>T
NM_001346323.2:c.652C>T
NM_001346324.2:c.652C>T
NM_001346325.2:c.652C>T
NM_001346326.2:c.652C>T
NM_001346327.2:c.652C>T
NM_001346328.2:c.652C>T
NM_001346329.2:c.652C>T
NM_001346330.2:c.652C>T
NM_001346331.2:c.652C>T
NM_001346332.2:c.652C>T
NM_001346333.2:c.652C>T
NM_001346334.2:c.652C>T
NM_001346335.2:c.652C>T
NM_001346336.2:c.652C>T
NM_001346337.2:c.652C>T
NM_001346338.2:c.652C>T
NM_001346340.2:c.652C>T
NM_001346342.2:c.652C>T
NM_001346344.2:c.652C>T
NM_001346346.2:c.652C>T
NM_001346348.2:c.652C>T
NM_001346349.2:c.652C>T
NM_001346350.2:c.652C>T
NM_001346351.2:c.652C>T
NM_001346352.2:c.652C>T
NM_001346353.2:c.652C>T
NM_001346354.2:c.652C>T
NM_001346355.2:c.652C>T
NM_001346356.2:c.652C>T
NG_051811.2:g.45028C>T
NG_051811.1:g.45304C>T
NC_000011.10:g.46657579C>T
NC_000011.9:g.46679129C>T
NR_144422.2:n.1059C>T
NR_144423.2:n.1059C>T
NR_144424.2:n.1059C>T
NM_001205119.1:c.652C>T
NP_001192051.1:p.Arg139Cys
NP_001192050.1:p.Arg218Cys
NP_001333262.1:p.Arg218Cys
NP_001333259.1:p.Arg218Cys
NP_001333260.1:p.Arg218Cys
NP_001333261.1:p.Arg218Cys
NP_001333263.1:p.Arg218Cys
NP_001333264.1:p.Arg218Cys
NP_001333265.1:p.Arg218Cys
NP_001333266.1:p.Arg218Cys
NP_001333267.1:p.Arg218Cys
NP_001333269.1:p.Arg218Cys
NP_001333271.1:p.Arg218Cys
NP_001333273.1:p.Arg218Cys
NP_001333275.1:p.Arg218Cys
NP_001333277.1:p.Arg218Cys
NP_001333278.1:p.Arg218Cys
NP_001333279.1:p.Arg218Cys
NP_001333280.1:p.Arg218Cys
NP_001333281.1:p.Arg218Cys
NP_001333282.1:p.Arg218Cys
NP_001333283.1:p.Arg218Cys
NP_001333284.1:p.Arg218Cys
NP_001333285.1:p.Arg218Cys
NP_055556.2:p.Arg218Cys
NP_001333286.1:p.Arg23Cys
NP_001333287.1:p.Arg23Cys
More...
05/15/2024
missense variant
uncertain significance
AllHighlyPenetrant
Variant Details
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV004683984
CLINVAR
MedGen
CN169374
CLINVAR
NCBI Gene
ATG13
CLINVAR
OMIM
615088
CLINVAR
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