RGD:405271650 Rat Genome Database

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Variant: RGD:405271650 -  Homo sapiens

RGD ID: 405271650
ClinVar ID: CV3219028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CORIN  LOC105374444  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 47,644,981
GRCh38 4 47,642,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278585.2:c.1756+182C>T
NM_006587.4:c.2068+182C>T
NM_001278586.2:c.2139C>T
NG_032679.1:g.200079C>T
More... 		08/26/2019 intron variant likely benign CORIN-related condition

Variant Details
Variant Transcripts
Gene Symbol:CORIN
Accession:NM_001278586
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 713
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQSPALAPEERCRRAGSPKPVLRADDNNMGNGCSQKLATANLLRFLLLVLIPCICALVLLLVILLSYVGTLQKVYFKSN
GSEPLVTDGEIQGSDVILTNTIYNQSTVVSTAHPDQHVPAWTTDASLPGDQSHRNTSACMNITHSQCQMLPYHATLTPLL
SVVRNMEMEKFLKFFTYLHRLSCYQHIMLFGCTLAFPECIIDGDDSHGLLPCRSFCEAAKEGCESVLGMVNYSWPDFLRC
SQFRNQTESSNVSRICFSPQQENGKQLLCGRGENFLCASGICIPGKLQCNGYNDCDDWSDEAHCNCSENLFHCHTGKCLN
YSLVCDGYDDCGDLSDEQNCACHSQGLVECRNGQCIPSTFQCDGDEDCKDGSDEENCSVIQTSCQEGDQRCLYNPCLDSC
GGSSLCDPNNSLNNCSQCEPITLELCMNLPYNSTSYPNYFGHRTQKEASISWESSLFPALVQTNCYKYLMFFSCTILVPK
CDVNTGEHIPPCRALCEHSKERCESVLGIVGLQWPEDTDCSQFPEENSDNQTCLMPDEYVEECSPSHFKCRSGQCVLASR
RCDGQADCDDDSDEENCGCKERDLWECPSNKQCLKHTVICDGFPDCPDYMDEKNCSFCQDDELECANHACVSRDLWCDGE
ADCSDSSDEWDCGELLVSAICCTLSCLSATEAEWILNYFLDFTDQVHLFCFTVIKADSADLCVLFPTHRKFPHEATSLFE
ISILYGKTFGFKML*

Gene Symbol:CORIN
Accession:NM_001278585
Location:INTRON

Gene Symbol:CORIN
Accession:NM_006587
Location:INTRON

Gene Symbol:LOC105374444
Accession:XR_007058109
Location:INTRON;NON-CODING

Gene Symbol:LOC105374444
Accession:XR_925284
Location:INTRON;NON-CODING

Gene Symbol:LOC105374444
Accession:XR_007058108
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003971752 CLINVAR
NCBI Gene CORIN CLINVAR
OMIM 605236 CLINVAR