rs1270823192 Rat Genome Database

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Variant: rs1270823192 -  Homo sapiens

RGD ID: 126910565
RS ID: rs1270823192
ClinVar ID: CV1053401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,945
GRCh38 21 36,461,647
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146079.2:c.49G>A
NM_012130.4:c.49G>A
NM_144492.3:c.49G>A
NC_000021.9:g.36461647C>T
More... 		04/12/2021 missense variant uncertain significance Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:XM_047440736
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_012130
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_144492
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146077
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146079
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440735
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146078
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLSMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14-AS1
Accession:NR_183534
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_183533
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001375234 CLINVAR
dbSNP (RS) rs1270823192 CLINVAR
MedGen C1567741 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR