RGD:11600057 Rat Genome Database

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Variant: RGD:11600057 -  Homo sapiens

RGD ID: 11600057
RS ID: rs369509998
ClinVar ID: CV314725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCLRE1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 14,950,395
GRCh38 10 14,908,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_54:g.50700G>A
NG_007276.1:g.50700G>A
NC_000010.11:g.14908396C>T
NC_000010.10:g.14950395C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance infancy <1 / 1 000 000 Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCLRE1C
Accession:NM_001289076
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_011519620
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425649
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425652
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425648
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425651
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289079
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_022487
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001033855
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001033858
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289077
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:XM_047425650
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001289078
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NM_001033857
Location:3UTRS;EXON

Gene Symbol:DCLRE1C
Accession:NR_146962
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_110297
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_146961
Location:EXON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NM_001350966
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350965
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_011519621
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350967
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XR_930515
Location:INTRON;NON-CODING

Gene Symbol:DCLRE1C
Accession:NR_146960
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000270519 CLINVAR
dbSNP (RS) rs369509998 CLINVAR
MedGen C2700553 CLINVAR
NCBI Gene DCLRE1C CLINVAR
OMIM 603554 CLINVAR
  605988 CLINVAR
SNOMED CT 307650006 CLINVAR