RGD:127267919 Rat Genome Database

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Variant: RGD:127267919 -  Homo sapiens

RGD ID: 127267919
RS ID: rs774274135
ClinVar ID: CV1076972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DCLRE1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 14,974,961
GRCh38 10 14,932,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001033857.3:c.319-7G>A
NM_001033858.3:c.319-7G>A
NM_001289077.2:c.319-7G>A
NM_001289079.2:c.319-7G>A
More... 		08/11/2020 intron variant likely benign SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation; Severe combined immunodeficiency with sensitivity to ionizing radiation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DCLRE1C
Accession:NM_001033855
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425648
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425652
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_022487
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001289077
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001289078
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001289079
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350965
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350966
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425650
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425651
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001033858
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_011519621
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001289076
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001350967
Location:INTRON

Gene Symbol:DCLRE1C
Accession:NM_001033857
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_011519620
Location:INTRON

Gene Symbol:DCLRE1C
Accession:XM_047425649
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001404266 CLINVAR
dbSNP (RS) rs774274135 CLINVAR
MedGen C1865370 CLINVAR
NCBI Gene DCLRE1C CLINVAR
OMIM 602450 CLINVAR
  605988 CLINVAR