RGD:156295440 Rat Genome Database

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Variant: RGD:156295440 -  Homo sapiens

RGD ID: 156295440
ClinVar ID: CV2297469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 134,014,822
GRCh38 11 134,144,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001205329.2:c.392C>T
NM_031470.1:c.545C>T
NM_032801.5:c.545C>T
NG_028348.1:g.81003C>T
More...
08/12/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JAM3
Accession:NM_032801
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHC
QESEGHPRPHYSWYRNDVPLPMDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI*

Gene Symbol:JAM3
Accession:NM_001205329
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFF
DNKIQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPLPMDSRANPRFRNSSFHLNSETGTLVFTAVHK
DDSGQYYCIASNDAGSARCEEQEMEVYDLNIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGV
NYIRTDEEGDFRHKSSFVI*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002879205 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene JAM3 CLINVAR
OMIM 606871 CLINVAR