RGD:408383071 Rat Genome Database
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Summary
ClinVar Data
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Variant: RGD:408383071 - Homo sapiens
RGD ID:
408383071
ClinVar ID:
CV3504666
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
GSN
Reference Nucleotide:
G
Variant Nucleotide:
A
Position
Assembly
Chr
Position
GRCh37
9
124,094,781
GRCh38
9
121,332,503
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_001127667.2:c.2129G>A
NM_001353063.2:c.2129G>A
NM_001353064.2:c.2129G>A
NM_001353065.2:c.2129G>A
NM_001353066.2:c.2129G>A
NM_001353067.2:c.2129G>A
NM_001353068.2:c.2129G>A
NM_001353069.2:c.2129G>A
NM_001353070.2:c.2129G>A
NM_001353071.2:c.2129G>A
NM_001353072.2:c.2129G>A
NM_001353073.2:c.2129G>A
NM_001353074.2:c.2129G>A
NM_001353075.1:c.2129G>A
NM_001353077.1:c.2129G>A
NM_001258029.2:c.2147G>A
NM_001353076.2:c.2168G>A
NM_001127663.2:c.2204G>A
NM_000177.5:c.2249G>A
NG_012872.2:g.136422G>A
NC_000009.12:g.121332503G>A
NC_000009.11:g.124094781G>A
NM_000177.4:c.2249G>A
NP_001340007.1:p.Gly481Asp
NM_001353078.2:c.1442G>A
NM_001127662.2:c.2096G>A
NM_001127664.2:c.2096G>A
NM_001127665.2:c.2096G>A
NM_001353053.1:c.2096G>A
NM_001353054.1:c.2096G>A
NM_001353055.2:c.2096G>A
NM_001353056.2:c.2096G>A
NM_001353057.2:c.2096G>A
NM_001353058.2:c.2096G>A
NM_001353059.2:c.2096G>A
NM_001353060.2:c.2096G>A
NM_001353061.2:c.2096G>A
NP_001339982.1:p.Gly699Asp
NP_001121134.1:p.Gly699Asp
NP_001121136.1:p.Gly699Asp
NP_001121137.1:p.Gly699Asp
NP_001339983.1:p.Gly699Asp
NP_001339984.1:p.Gly699Asp
NP_001339985.1:p.Gly699Asp
NP_001339986.1:p.Gly699Asp
NP_001339987.1:p.Gly699Asp
NP_001339988.1:p.Gly699Asp
NP_001339989.1:p.Gly699Asp
NP_001339990.1:p.Gly699Asp
NP_001339991.1:p.Gly699Asp
NP_937895.1:p.Gly699Asp
NP_001244959.1:p.Gly707Asp
NP_001121138.1:p.Gly710Asp
NP_001121139.1:p.Gly710Asp
NP_001339992.1:p.Gly710Asp
NP_001339993.1:p.Gly710Asp
NP_001339994.1:p.Gly710Asp
NP_001339995.1:p.Gly710Asp
NP_001339996.1:p.Gly710Asp
NP_001339997.1:p.Gly710Asp
NP_001339998.1:p.Gly710Asp
NP_001339999.1:p.Gly710Asp
NP_001340000.1:p.Gly710Asp
NP_001340001.1:p.Gly710Asp
NP_001340002.1:p.Gly710Asp
NP_001340003.1:p.Gly710Asp
NP_001340004.1:p.Gly710Asp
NP_001340006.1:p.Gly710Asp
NP_001244958.1:p.Gly716Asp
NP_001340005.1:p.Gly723Asp
NP_001121135.2:p.Gly735Asp
NP_000168.1:p.Gly750Asp
NM_001353062.1:c.2096G>A
NM_198252.3:c.2096G>A
NM_001258030.2:c.2120G>A
NM_001127666.2:c.2129G>A
More...
07/06/2024
missense variant
uncertain significance
GSN-related condition
Variant Details
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
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Additional Information
External Database Links
1 to 3 of 3 rows
3
5
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Database
Acc Id
Source(s)
ClinVar
RCV004730392
CLINVAR
NCBI Gene
GSN
CLINVAR
OMIM
137350
CLINVAR
1 to 3 of 3 rows
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