RGD:15134921 Rat Genome Database

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Variant: RGD:15134921 -  Homo sapiens

RGD ID: 15134921
RS ID: rs369474630
ClinVar ID: CV760113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH6A1  BBOF1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 74,539,321
GRCh38 14 74,072,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278594.2:c.-514-7T>G
NM_001278593.2:c.112-7T>G
NM_005589.4:c.112-7T>G
NG_012257.2:g.16876T>G
More... 		05/16/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALDH6A1
Accession:NM_001278594
Location:5UTRS;INTRON

Gene Symbol:BBOF1
Accession:XM_011537171
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537177
Location:INTRON

Gene Symbol:ALDH6A1
Accession:NM_005589
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431783
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021660
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537174
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537178
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021661
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431778
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537179
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431782
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431785
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537170
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431780
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021663
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537176
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431781
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_005268092
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431779
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431784
Location:INTRON

Gene Symbol:ALDH6A1
Accession:NM_001278593
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537175
Location:INTRON

Gene Symbol:BBOF1
Accession:NM_025057
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021662
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000920767 CLINVAR
  RCV003902994 CLINVAR
dbSNP (RS) rs369474630 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALDH6A1 CLINVAR
  BBOF1 CLINVAR
OMIM 603178 CLINVAR
  620496 CLINVAR