RGD:26912725 Rat Genome Database

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Variant: RGD:26912725 -  Homo sapiens

RGD ID: 26912725
RS ID: rs369626998
ClinVar ID: CV851649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  LOC105371093  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 14,020,409
GRCh38 16 13,926,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_463t1:c.389-9C>A
NM_005236.3:c.389-9C>A
LRG_463:g.11396C>A
NG_011442.1:g.11396C>A
More... 		08/23/2022 intron variant likely benign|uncertain significance Cockayne syndrome; Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Fanconi anemia complementation group Q; Progeria-like syndrome; Progeroid nanism; XERODERMA PIGMENTOSUM VI; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; Xeroderma pigmentosum, type 6; XERODERMA PIGMENTOSUM, TYPE F; XP, GROUP F
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC105371093
Accession:XR_007065000
Location:EXON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007064999
Location:EXON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007064998
Location:EXON;NON-CODING

Gene Symbol:ERCC4
Accession:XM_011522424
Location:INTRON

Gene Symbol:ERCC4
Accession:NM_005236
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_047433774
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_011522427
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001039603 CLINVAR
  RCV003983826 CLINVAR
dbSNP (RS) rs369626998 CLINVAR
MedGen C0268140 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR
  278760 CLINVAR
  615272 CLINVAR
SNOMED CT 42530008 CLINVAR