RGD:28905087 Rat Genome Database

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Variant: RGD:28905087 -  Homo sapiens

RGD ID: 28905087
RS ID: rs1051657215
ClinVar ID: CV867233
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECTIN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,532,106
GRCh38 11 119,661,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002855.5:c.*3351G>A
NM_203285.2:c.1003+13763G>A
NG_013083.2:g.72330G>A
NC_000011.10:g.119661396C>T
More... 		01/13/2018 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 RCV001105864 CLINVAR
dbSNP (RS) rs1051657215 CLINVAR
MedGen C2931488 CLINVAR
NCBI Gene NECTIN1 CLINVAR
OMIM 225060 CLINVAR
  600644 CLINVAR