RGD:28898421 Rat Genome Database

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Variant: RGD:28898421 -  Homo sapiens

RGD ID: 28898421
RS ID: rs1305206364
ClinVar ID: CV867280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECTIN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,534,191
GRCh38 11 119,663,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013083.2:g.70245C>T
NM_002855.5:c.*1266C>T
NM_203285.2:c.1003+11678C>T
NC_000011.10:g.119663481G>A
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 RCV001102987 CLINVAR
dbSNP (RS) rs1305206364 CLINVAR
MedGen C2931488 CLINVAR
NCBI Gene NECTIN1 CLINVAR
OMIM 225060 CLINVAR
  600644 CLINVAR