RGD:12833077 Rat Genome Database

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Variant: RGD:12833077 -  Homo sapiens

RGD ID: 12833077
RS ID: rs530248269
ClinVar ID: CV369807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 177,027,186
GRCh38 5 177,600,185
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015977.1:g.5068C>T
NC_000005.10:g.177600185C>T
NC_000005.9:g.177027186C>T
NM_007255.3:c.-26C>T
More... 		01/30/2018 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:B4GALT7
Accession:XM_047416682
Location:5UTRS;EXON

Gene Symbol:B4GALT7
Accession:XM_047416681
Location:5UTRS;EXON

Gene Symbol:B4GALT7
Accession:NM_007255
Location:5UTRS;EXON

Gene Symbol:B4GALT7
Accession:XM_047416680
Location:INTRON

Gene Symbol:B4GALT7
Accession:XM_006714816
Location:INTRON

Gene Symbol:B4GALT7
Accession:XM_017008999
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000417827 CLINVAR
dbSNP (RS) rs530248269 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene B4GALT7 CLINVAR
  LOC129995400 CLINVAR
OMIM 604327 CLINVAR