rs377521523 Rat Genome Database

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Variant: rs377521523 -  Homo sapiens

RGD ID: 152135984
RS ID: rs377521523
ClinVar ID: CV1624707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  LOC126862021  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 90,870,854
GRCh38 14 90,404,510
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001363669.2:c.309T>C
NM_006888.6:c.417T>C
NM_001363670.2:c.420T>C
NG_013338.1:g.12528T>C
More... 		03/22/2021 synonymous variant likely benign Long QT syndrome 14
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1624707Humancatecholaminergic polymorphic ventricular tachycardia 4  IAGP 8554872ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4ClinVarPMID:28492532
Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363669
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002177423 CLINVAR
dbSNP (RS) rs377521523 CLINVAR
MedGen C3554047 CLINVAR
NCBI Gene CALM1 CLINVAR
  LOC126862021 CLINVAR
OMIM 114180 CLINVAR
  614916 CLINVAR
  616247 CLINVAR