RGD:14741492 Rat Genome Database

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Variant: RGD:14741492 -  Homo sapiens

RGD ID: 14741492
RS ID: rs368961025
ClinVar ID: CV640360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GAT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,114,033
GRCh38 11 66,346,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006876.3:c.984C>G
NG_033202.1:g.6129C>G
NC_000011.10:g.66346562G>C
NC_000011.9:g.66114033G>C
More... 		12/14/2018 missense variant uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13; none provided; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B4GAT1
Accession:NM_006876
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYR
VYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP
WQDPWEPLYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQF
KQELKAKYPNSPRRC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000822257 CLINVAR
  RCV001766742 CLINVAR
dbSNP (RS) rs368961025 CLINVAR
MedGen C3809042 CLINVAR
  CN517202 CLINVAR
NCBI Gene B4GAT1 CLINVAR
OMIM 605517 CLINVAR
  615287 CLINVAR