RGD:401743998 Rat Genome Database

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Variant: RGD:401743998 -  Homo sapiens

RGD ID: 401743998
ClinVar ID: CV2684829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSI1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 120,805,858
GRCh38 12 120,368,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001414493.1:c.-43+137G>A
NM_002442.2:c.220G>A
NP_001401418.1:p.Val23Met
NP_001401419.1:p.Val6Met
More... 		05/30/2023 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MSI1
Accession:NM_001414494
Location:5UTRS;EXON

Gene Symbol:MSI1
Accession:NM_001414498
Location:5UTRS;EXON

Gene Symbol:MSI1
Accession:NM_001414493
Location:5UTRS;INTRON

Gene Symbol:MSI1
Accession:NM_001414496
Location:5UTRS;INTRON

Gene Symbol:MSI1
Accession:XM_047428872
Location:5UTRS;INTRON

Gene Symbol:MSI1
Accession:NM_001414495
Location:5UTRS;INTRON

Gene Symbol:MSI1
Accession:NM_001414497
Location:5UTRS;INTRON

Gene Symbol:MSI1
Accession:NM_002442
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQ
SRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESE
DIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYT
YQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELY
GAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414489
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDPLTKRSRGFGFVTFMDQAGMDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQ
FGKVDDAMLMFDKTTNRHRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFM
LGIGMLGYPGFQATTYASRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPW
TMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414487
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQ
SRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESE
DIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYT
YQFPAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPA
PSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414490
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQAGMDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNR
HRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYA
SRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFL
GTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414485
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQS
RHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESED
IVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYTY
QFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYG
AANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:XM_011538361
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQ
SRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESE
DIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYT
YQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELY
GAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414492
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQAGMDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNR
HRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYA
SRSYTGLAPGYTYQFPAIPLTAYGPMAAAAAAAAVVRGTGSHPWTMAPPPGSTPSRTGGFLGTTSPGPMAELYGAANQDS
GVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414486
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQ
SRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESE
DIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYT
YQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSS
YISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414488
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METDAPQPGLASPDSPHDPCKMFIGGLSWQTTQEGLREYFGQFGEVKECLVMRDPLTKRSRGFGFVTFMDQAGMDKVLAQ
SRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNRHRGFGFVTFESE
DIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYASRSYTGLAPGYT
YQFPAIPLTAYGPMAAAAAAAAVVRGTGSTPSRTGGFLGTTSPGPMAELYGAANQDSGVSSYISAASPAPSTGFGHSLGG
PLIATAFTNGYH*

Gene Symbol:MSI1
Accession:NM_001414491
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQAGMDKVLAQSRHELDSKTIDPKVAFPRRAQPKMVTRTKKIFVGGLSVNTTVEDVKQYFEQFGKVDDAMLMFDKTTNR
HRGFGFVTFESEDIVEKVCEIHFHEINNKMVECKKAQPKEVMSPTGSARGRSRVMPYGMDAFMLGIGMLGYPGFQATTYA
SRSYTGLAPGYTYQFPEFRVERTPLPSAPVLPELTAIPLTAYGPMAAAAAAAAVVRGTGSTPSRTGGFLGTTSPGPMAEL
YGAANQDSGVSSYISAASPAPSTGFGHSLGGPLIATAFTNGYH*

Gene Symbol:MSI1
Accession:XM_011538370
Location:INTRON

Gene Symbol:MSI1
Accession:XM_011538366
Location:INTRON

Gene Symbol:MSI1
Accession:XM_011538371
Location:INTRON

Gene Symbol:MSI1
Accession:XM_011538364
Location:INTRON

Gene Symbol:MSI1
Accession:XM_006719404
Location:INTRON

Gene Symbol:MSI1
Accession:XM_011538368
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004293901 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MSI1 CLINVAR
OMIM 603328 CLINVAR