rs1308181941 Rat Genome Database

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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



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
More...
07/15/2023 intron variant likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1654541HumanHereditary Paraganglioma-Pheochromocytoma Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma SyndromesClinVarPMID:28492532
CV1654541Humanparaganglioma  IAGP 8554872ClinVar Annotator: match by term: Hereditary Paragangliomas and PheochromocytomasClinVarPMID:28492532


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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002191094 CLINVAR
dbSNP (RS) rs1308181941 CLINVAR
MedGen C1708353 CLINVAR
NCBI Gene LOC130055850 CLINVAR
  MAX CLINVAR
OMIM 154950 CLINVAR