rs1308181941 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
PubMed References
Additional Information
External Database Links
Variant: rs1308181941 - Homo sapiens
RGD ID:
152065437
RS ID:
rs1308181941
ClinVar ID:
CV1654541
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
LOC130055850
MAX
Reference Nucleotide:
G
Variant Nucleotide:
A
Position
Assembly
Chr
Position
GRCh37
14
65,569,002
GRCh38
14
65,102,284
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_001320415.2:c.-239+20C>T
NM_001271068.2:c.36+20C>T
NM_001271069.2:c.36+20C>T
NM_002382.5:c.36+20C>T
NM_145112.3:c.36+20C>T
NM_145113.3:c.36+20C>T
NM_145114.3:c.36+20C>T
NM_197957.4:c.36+20C>T
LRG_530:g.5226C>T
NG_029830.1:g.5226C>T
NC_000014.9:g.65102284G>A
NC_000014.8:g.65569002G>A
More...
07/15/2023
intron variant
likely benign
Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1654541
Human
Hereditary Paraganglioma-Pheochromocytoma Syndromes
IAGP
8554872
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:28492532
CV1654541
Human
paraganglioma
IAGP
8554872
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:28492532
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Disease Annotations
Click to see Annotation Summary View
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Hereditary Paraganglioma-Pheochromocytoma Syndromes
(IAGP)
paraganglioma
(IAGP)
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Variant Details
Variant Transcripts
Gene Symbol:
MAX
Accession:
NM_001320415
Location:
5UTRS;INTRON
Gene Symbol:
MAX
Accession:
NM_001407112
Location:
5UTRS;INTRON
Gene Symbol:
MAX
Accession:
NM_001407107
Location:
5UTRS;INTRON
Gene Symbol:
MAX
Accession:
NM_001407106
Location:
5UTRS;INTRON
Gene Symbol:
MAX
Accession:
NM_145113
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407097
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_197957
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407102
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407110
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407109
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_002382
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407095
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407103
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407108
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407098
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_145114
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407096
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407111
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407113
Location:
INTRON
Gene Symbol:
MAX
Accession:
XM_011536773
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407101
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_145112
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407104
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407114
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001271069
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001271068
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407094
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407099
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407100
Location:
INTRON
Gene Symbol:
MAX
Accession:
NM_001407105
Location:
INTRON
Gene Symbol:
MAX
Accession:
NR_176276
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176278
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176275
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176283
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176277
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176280
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_073138
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176281
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176279
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_073137
Location:
INTRON;NON-CODING
Gene Symbol:
MAX
Accession:
NR_176282
Location:
INTRON;NON-CODING
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
28492532
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV002191094
CLINVAR
dbSNP (RS)
rs1308181941
CLINVAR
MedGen
C1708353
CLINVAR
NCBI Gene
LOC130055850
CLINVAR
MAX
CLINVAR
OMIM
154950
CLINVAR
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