RGD:9834938 Rat Genome Database

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Variant: RGD:9834938 -  Homo sapiens

RGD ID: 9834938
RS ID: rs730882253
ClinVar ID: CV181365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 90,870,295
GRCh38 14 90,403,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_013338.1:g.11969T>C
NC_000014.9:g.90403951T>C
NC_000014.8:g.90870295T>C
NP_008819.1:p.Phe90Leu
More... 		07/22/2020 missense variant pathogenic|likely pathogenic 1-5 / 10 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREALRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363669
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREALRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREALRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
Variant Samples
Additional References at PubMed
PMID:24076290   PMID:25036739   PMID:25741868   PMID:27165696  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162064 CLINVAR
dbSNP (RS) rs730882253 CLINVAR
MedGen C4015671 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR
  616247 CLINVAR
OMIM Allele 114180.0005 CLINVAR