RGD:405167109 Rat Genome Database

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Variant: RGD:405167109 -  Homo sapiens

RGD ID: 405167109
ClinVar ID: CV3107195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 14,021,961
GRCh38 16 13,928,104
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_463t1:c.661A>G
NM_005236.3:c.661A>G
LRG_463:g.12948A>G
NG_011442.1:g.12948A>G
More... 		09/20/2023 missense variant 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003802686 CLINVAR
MedGen C0268140 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR
  278760 CLINVAR
  615272 CLINVAR
SNOMED CT 42530008 CLINVAR