RGD:126746636 Rat Genome Database

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Variant: RGD:126746636 -  Homo sapiens

RGD ID: 126746636
ClinVar ID: CV1017364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP1  WTAPP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 102,666,024
GRCh38 11 102,795,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145938.2:c.584-2A>G
NM_002421.4:c.782-2A>G
NG_011740.2:g.7943A>G
NC_000011.10:g.102795293T>C
More...
03/27/2019 splice acceptor variant pathogenic PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MMP1
Accession:NM_001145938
Location:INTRON

Gene Symbol:MMP1
Accession:NM_002421
Location:INTRON

Gene Symbol:WTAPP1
Accession:NR_038390
Location:INTRON;NON-CODING

Variant Samples