RGD:28909110 Rat Genome Database

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Variant: RGD:28909110 -  Homo sapiens

RGD ID: 28909110
RS ID: rs114244021
ClinVar ID: CV867278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECTIN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 119,534,120
GRCh38 11 119,663,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002855.4:c.*1337T>C
NM_002855.5:c.*1337T>C
NM_203285.2:c.1003+11749T>C
NG_013083.2:g.70316T>C
More... 		01/12/2018 3 prime utr variant uncertain significance ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE; ECTODERMAL DYSPLASIA, TYPE 4; Zlotogora syndrome; Zlotogora-Ogur syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NECTIN1
Accession:NM_002855
Location:3UTRS;EXON

Gene Symbol:NECTIN1
Accession:NM_203285
Location:INTRON

Gene Symbol:NECTIN1
Accession:NM_203286
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001108189 CLINVAR
dbSNP (RS) rs114244021 CLINVAR
MedGen C2931488 CLINVAR
NCBI Gene NECTIN1 CLINVAR
OMIM 225060 CLINVAR
  600644 CLINVAR