RGD:28891674 Rat Genome Database

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Variant: RGD:28891674 -  Homo sapiens

RGD ID: 28891674
RS ID: rs945573017
ClinVar ID: CV872471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH6A1  BBOF1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,524,923
GRCh38 14 74,058,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025057.3:c.1578+962G>T
NG_033060.1:g.43865G>T
NM_005589.3:c.*2422C>A
NM_005589.4:c.*2422C>A
More...
04/06/2018 3 prime utr variant uncertain significance MMSDH DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH6A1
Accession:NM_005589
Location:3UTRS;EXON

Gene Symbol:ALDH6A1
Accession:NM_001278593
Location:3UTRS;EXON

Gene Symbol:ALDH6A1
Accession:NM_001278594
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:NM_025057
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_005268092
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537174
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537171
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537170
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537175
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537179
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537176
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537177
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537178
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021663
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021661
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021660
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021662
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431778
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431779
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431781
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431783
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431780
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431782
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431785
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431784
Location:INTRON

Gene Symbol:BBOF1
Accession:XR_007064048
Location:INTRON;NON-CODING

Gene Symbol:BBOF1
Accession:XR_007064049
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001121065 CLINVAR
dbSNP (RS) rs945573017 CLINVAR
MedGen C3279840 CLINVAR
NCBI Gene ALDH6A1 CLINVAR
  BBOF1 CLINVAR
OMIM 603178 CLINVAR
  614105 CLINVAR