RGD:401777238 Rat Genome Database

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Variant: RGD:401777238 -  Homo sapiens

RGD ID: 401777238
ClinVar ID: CV2707819
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMP3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 48,830,151
GRCh38 19 48,326,894
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001313905.1:c.50T>C
NM_001425.3:c.50T>C
NC_000019.10:g.48326894T>C
NC_000019.9:g.48830151T>C
More... 		04/18/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EMP3
Accession:NM_001425
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLLLVVSALHILILTLLFVATLDKSWWTLPGKESLNLWYDCTWNNDTKTWACSNVSENGWLKAVQVLMVLSLILCCLS
FILFMFQLYTMRRGGLFYATGLCQLCTSVAVFTGALIYAIHAEEILEKHPRGGSFGYCFALAWVAFPLALVSGIIYIHLR
KRE*

Gene Symbol:EMP3
Accession:XM_011526605
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLLLVVSALHILILTLLFVATLDKSWWTLPGKESLNLWYDCTWNNDTKTWACSNVSENGWLKAVQVLMVLSLILCCLS
FILFMFQLYTMRRGGLFYATGLCQLCTSVAVFTGALIYAIHAEEILEKHPRGGSFGYCFALAWVAFPLALVSGIIYIHLR
KRE*

Gene Symbol:EMP3
Accession:NM_001313905
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLLLVVSALHILILTLLFVATLDKSWWTLPGKESLNLWYDCTWNNDTKTWACSNVSENGWLKAVQVLMVLSLILCCLS
FILFMFQLYTMRRGGLFYATGLCQLCTSVAVFTGALIYAIHAEEILEKHPRGGSFGYCFALAWVAFPLALVSGIIYIHLR
KRE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003286692 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene EMP3 CLINVAR
OMIM 602335 CLINVAR