RGD:150407863 Rat Genome Database

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Variant: RGD:150407863 -  Homo sapiens

RGD ID: 150407863
RS ID: rs186759451
ClinVar ID: CV1178676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM1  RAB33A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 129,283,187
GRCh38 X 130,149,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004208.4:c.349+257C>T
NG_013217.1:g.21622C>T
NC_000023.11:g.130149212G>A
NC_000023.10:g.129283187G>A
More...
08/17/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB33A
Accession:NM_004794
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_001130846
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_001130847
Location:INTRON

Gene Symbol:RAB33A
Accession:XM_017029963
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_145812
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_004208
Location:INTRON

Gene Symbol:AIFM1
Accession:NR_132647
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001545713 CLINVAR
dbSNP (RS) rs186759451 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIFM1 CLINVAR
  RAB33A CLINVAR
OMIM 300169 CLINVAR
  300333 CLINVAR