RGD:13623802 Rat Genome Database

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Variant: RGD:13623802 -  Homo sapiens

RGD ID: 13623802
RS ID: rs143223962
ClinVar ID: CV526955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GAT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,113,622
GRCh38 11 66,346,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033202.1:g.6540C>G
NC_000011.10:g.66346151G>C
NC_000011.9:g.66113622G>C
NP_006867.1:p.Phe382Leu
More... 		12/31/2019 missense variant benign|likely benign|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: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYR
VYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP
WQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKLHPQKEAENQHNKILYRQF
KQELKAKYPNSPRRC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000828148 CLINVAR
  RCV001079253 CLINVAR
dbSNP (RS) rs143223962 CLINVAR
MedGen C3661900 CLINVAR
  C3809042 CLINVAR
NCBI Gene B4GAT1 CLINVAR
OMIM 605517 CLINVAR
  615287 CLINVAR