RGD:401933594 Rat Genome Database
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Summary
ClinVar Data
Variant Details
Variant Transcripts
Variant Samples
PubMed References
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Variant: RGD:401933594 - Homo sapiens
RGD ID:
401933594
ClinVar ID:
CV2802114
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
GPI
Reference Nucleotide:
T
Variant Nucleotide:
A
Position
Assembly
Chr
Position
GRCh37
19
34,869,910
GRCh38
19
34,379,005
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
LRG_1178t1:c.705T>A
NM_001289790.3:c.621T>A
NM_000175.5:c.705T>A
NM_001329909.1:c.705T>A
NM_001329910.1:c.705T>A
NM_001329911.2:c.705T>A
NM_001184722.1:c.738T>A
NM_001289789.1:c.822T>A
LRG_1178:g.24414T>A
NG_012838.3:g.24414T>A
NC_000019.10:g.34379005T>A
NC_000019.9:g.34869910T>A
NM_000175.4:c.705T>A
LRG_1178p1:p.Asp235Glu
NP_001276719.1:p.Asp207Glu
NP_000166.2:p.Asp235Glu
NP_001316838.1:p.Asp235Glu
NP_001316839.1:p.Asp235Glu
NP_001316840.1:p.Asp235Glu
NP_001171651.1:p.Asp246Glu
NP_001276718.1:p.Asp274Glu
More...
03/14/2023
missense variant
uncertain significance
GPI-related condition
Variant Details
Variant Transcripts
Gene Symbol:
GPI
Accession:
NM_001184722
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_000175
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_001289789
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_001289790
Location:
INTRON
Gene Symbol:
GPI
Accession:
XM_011526754
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_001329909
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_001329910
Location:
INTRON
Gene Symbol:
GPI
Accession:
NM_001329911
Location:
INTRON
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
25741868
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV003410468
CLINVAR
NCBI Gene
GPI
CLINVAR
OMIM
172400
CLINVAR
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