RGD:15169398 Rat Genome Database

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Variant: RGD:15169398 -  Homo sapiens

RGD ID: 15169398
RS ID: rs1279767209
ClinVar ID: CV778550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB7  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 74,290,367
GRCh38 X 75,070,532
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271697.3:c.1088-10G>T
NM_001271699.3:c.1091-10G>T
NM_001271698.3:c.1130-10G>T
NM_001271696.3:c.1208-10G>T
More... 		04/11/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCB7
Accession:NM_004299
Location:INTRON

Gene Symbol:ABCB7
Accession:NM_001271697
Location:INTRON

Gene Symbol:ABCB7
Accession:NM_001271696
Location:INTRON

Gene Symbol:ABCB7
Accession:NM_001271698
Location:INTRON

Gene Symbol:ABCB7
Accession:NM_001271699
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000949450 CLINVAR
dbSNP (RS) rs1279767209 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ABCB7 CLINVAR
OMIM 300135 CLINVAR