RGD:15145530 Rat Genome Database

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Variant: RGD:15145530 -  Homo sapiens

RGD ID: 15145530
RS ID: rs762047997
ClinVar ID: CV714260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 90,870,228
GRCh38 14 90,403,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363669.2:c.93C>T
NM_001363670.2:c.204C>T
NP_001350598.1:p.Pro31=
NM_006888.6:c.201C>T
More... 		08/09/2018 synonymous variant likely benign Long QT syndrome 14
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363669
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002547295 CLINVAR
  RCV003169484 CLINVAR
dbSNP (RS) rs762047997 CLINVAR
MedGen C3554047 CLINVAR
  CN230736 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR
  614916 CLINVAR
  616247 CLINVAR