RGD:150499088 Rat Genome Database

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Variant: RGD:150499088 -  Homo sapiens

RGD ID: 150499088
RS ID: rs188923962
ClinVar ID: CV1209026
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM1  RAB33A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 129,271,321
GRCh38 X 130,137,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130847.4:c.*172C>T
NM_001130846.4:c.-211C>T
NM_145812.3:c.956-161C>T
NM_004208.4:c.968-161C>T
More... 		06/01/2019 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AIFM1
Accession:NM_001130847
Location:3UTRS;EXON

Gene Symbol:AIFM1
Accession:NM_001130846
Location:5UTRS;EXON

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

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:RAB33A
Accession:NM_004794
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001594243 CLINVAR
dbSNP (RS) rs188923962 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIFM1 CLINVAR
  RAB33A CLINVAR
OMIM 300169 CLINVAR
  300333 CLINVAR