RGD:12845577 Rat Genome Database

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Variant: RGD:12845577 -  Homo sapiens

RGD ID: 12845577
RS ID: rs139706811
ClinVar ID: CV373940
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 90,870,761
GRCh38 14 90,404,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001350599.1:p.His109=
NP_001350598.1:p.His72=
NM_001363670.2:c.327C>T
NP_008819.1:p.His108=
More... 		09/08/2023 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:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000556220 CLINVAR
  RCV000621603 CLINVAR
  RCV001698289 CLINVAR
  RCV003959980 CLINVAR
dbSNP (RS) rs139706811 CLINVAR
MedGen C3554047 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR
  614916 CLINVAR
  616247 CLINVAR