RGD:405854222 Rat Genome Database

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Variant: RGD:405854222 -  Homo sapiens

RGD ID: 405854222
ClinVar ID: CV3393836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 90,870,755
GRCh38 14 90,404,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000014.9:g.90404411A>G
NC_000014.8:g.90870755A>G
NP_008819.1:p.Leu106=
NP_001350599.1:p.Leu107=
More...
04/01/2024 synonymous variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:CALM1
Accession:NM_006888
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363669
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM1
Accession:NM_001363670
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD
TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

.


Database
Acc Id
Source(s)
ClinVar RCV004547062 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CALM1 CLINVAR
OMIM 114180 CLINVAR