RGD:401932428 Rat Genome Database

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Variant: RGD:401932428 -  Homo sapiens

RGD ID: 401932428
ClinVar ID: CV2797411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPIG6B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 31,692,533
GRCh38 6 31,724,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1003t1:c.552C>G
LRG_1003t2:c.542-9C>G
NM_138275.3:c.410-9C>G
NM_138274.3:c.420C>G
More... 		09/13/2022 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:MPIG6B
Accession:NM_138277
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
LVWWLHRRLPPQPIRPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTGKGMGMGRG*

Gene Symbol:MPIG6B
Accession:NM_025260
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
LVWWLHRRLPPQPIRPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC*

Gene Symbol:MPIG6B
Accession:NM_138273
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGACPRNRFDHSLDLLCPRHIAPLV
KTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV*

Gene Symbol:MPIG6B
Accession:NM_138274
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHALSPPHSSTCENRAPEASKGGRAQ
DSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC*

Gene Symbol:MPIG6B
Accession:NM_138272
Location:INTRON

Gene Symbol:MPIG6B
Accession:NM_138275
Location:INTRON

Gene Symbol:MPIG6B
Accession:XM_017011333
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003408682 CLINVAR
NCBI Gene MPIG6B CLINVAR
OMIM 606520 CLINVAR