RGD:28874474 Rat Genome Database

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Variant: RGD:28874474 -  Homo sapiens

RGD ID: 28874474
RS ID: rs1175589944
ClinVar ID: CV872563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LTBP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 74,966,658
GRCh38 14 74,499,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000428.3:c.*929A>G
NG_021486.1:g.117377A>G
NC_000014.9:g.74499955T>C
NC_000014.8:g.74966658T>C
More... 		04/27/2017 3 prime utr variant uncertain significance Mesodermal dysmorphodystrophy congenital; WM Syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LTBP2
Accession:NM_000428
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001115476 CLINVAR
  RCV001115477 CLINVAR
dbSNP (RS) rs1175589944 CLINVAR
MedGen C0265313 CLINVAR
  C2751316 CLINVAR
NCBI Gene LTBP2 CLINVAR
OMIM 602091 CLINVAR
  613086 CLINVAR