rs1684398953 Rat Genome Database

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Variant: rs1684398953 -  Homo sapiens

RGD ID: 26922809
RS ID: rs1684398953
ClinVar ID: CV827148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129934333  TMEM127  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 96,931,118
GRCh38 2 96,265,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_528t1:c.2T>G
NM_001193304.3:c.2T>G
NM_017849.4:c.2T>G
LRG_528:g.5634T>G
More... 		10/24/2022 initiatior codon variant|initiator_codon_variant pathogenic|likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Neoplastic Syndromes, Hereditary; Tumor predisposition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV827148HumanHereditary Neoplastic Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary Cancer SyndromeClinVarPMID:21156949 more ...
CV827148HumanHereditary Paraganglioma-Pheochromocytoma Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma SyndromesClinVarPMID:21156949 more ...
CV827148Humanparaganglioma  IAGP 8554872ClinVar Annotator: match by term: Hereditary Paragangliomas and PheochromocytomasClinVarPMID:21156949 more ...
Gene Symbol:TMEM127
Accession:NM_001407283
Location:5UTRS;INTRON

Gene Symbol:TMEM127
Accession:NM_001193304
Location:EXON

Gene Symbol:TMEM127
Accession:NM_017849
Location:EXON

Gene Symbol:TMEM127
Accession:NM_001407282
Location:INTRON

.
PMID:21156949   PMID:28384794   PMID:28492532   PMID:29282712  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001062786 CLINVAR
  RCV002436648 CLINVAR
dbSNP (RS) rs1684398953 CLINVAR
MedGen C0027672 CLINVAR
  C1708353 CLINVAR
NCBI Gene LOC129934333 CLINVAR
  TMEM127 CLINVAR
OMIM 613403 CLINVAR
SNOMED CT 699346009 CLINVAR
1 to 9 of 9 rows