RGD:155937648 Rat Genome Database

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Variant: RGD:155937648 -  Homo sapiens

RGD ID: 155937648
ClinVar ID: CV2045984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 90,870,240
GRCh38 14 90,403,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000014.8:g.90870240T>C
NM_001363669.2:c.105T>C
NM_006888.6:c.213T>C
NM_001363670.2:c.216T>C
More...
05/15/2023 synonymous variant likely benign Long QT syndrome 14
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2045984Humancatecholaminergic 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: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363669
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002751570 CLINVAR
MedGen C3554047 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR
  614916 CLINVAR
  616247 CLINVAR