RGD:12839109 Rat Genome Database

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Variant: RGD:12839109 -  Homo sapiens

RGD ID: 12839109
RS ID: rs755065015
ClinVar ID: CV374404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 90,866,423
GRCh38 14 90,400,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013338.1:g.8097C>T
NC_000014.9:g.90400079C>T
NC_000014.8:g.90866423C>T
NP_008819.1:p.Thr6=
More... 		10/14/2020 5 prime utr variant|synonymous variant likely benign Long QT syndrome 14; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CALM1
Accession:NM_001363669
Location:5UTRS;EXON

Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000868494 CLINVAR
  RCV001495669 CLINVAR
  RCV002411409 CLINVAR
dbSNP (RS) rs755065015 CLINVAR
MedGen C3554047 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR
  614916 CLINVAR
  616247 CLINVAR