rs776564488 Rat Genome Database

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Variant: rs776564488 -  Homo sapiens

RGD ID: 151732671
RS ID: rs776564488
ClinVar ID: CV1336405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,567
GRCh38 21 36,461,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011777.1:g.120301G>A
NC_000021.9:g.36461269C>T
NM_001146077.1:c.427G>A
NP_001139549.1:p.Val143Met
More... 		12/15/2022 missense variant association|uncertain significance Aneurysm of the vein of Galen; Ectasia or varix of the vein of Galen; Galen vein aneurysm; Galenic arteriovenous malformation; none provided; Vein of Galen aneurysm; Vein of Galen aneurysm malformation; Vein of Galen malformation
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:NM_012130
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146079
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146077
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146078
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_144492
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440735
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440736
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDLVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14-AS1
Accession:NR_183533
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183530
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183532
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183534
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183531
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183529
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:30578106  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001849633 CLINVAR
  RCV003235603 CLINVAR
dbSNP (RS) rs776564488 CLINVAR
MedGen C0431420 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
SNOMED CT 253194008 CLINVAR