RGD:126760743 Rat Genome Database

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Variant: RGD:126760743 -  Homo sapiens

RGD ID: 126760743
RS ID: rs763929903
ClinVar ID: CV999122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC52A3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 742,449
GRCh38 20 761,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1394t1:c.1093G>C
NM_001370085.1:c.1093G>C
NM_001370086.1:c.1093G>C
NM_033409.4:c.1093G>C
More... 		09/01/2020 missense variant uncertain significance BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD; BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; Pontobulbar palsy and neurosensory deafness; PONTOBULBAR PALSY WITH DEAFNESS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC52A3
Accession:XM_047439867
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*

Gene Symbol:SLC52A3
Accession:XM_024451821
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*

Gene Symbol:SLC52A3
Accession:NM_001370085
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*

Gene Symbol:SLC52A3
Accession:NM_001370086
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*

Gene Symbol:SLC52A3
Accession:NM_033409
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*

Gene Symbol:SLC52A3
Accession:XM_047439868
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLG
VGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQG
SGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPS
VQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGLLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIV
ASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001309403 CLINVAR
dbSNP (RS) rs763929903 CLINVAR
MedGen C0796274 CLINVAR
NCBI Gene SLC52A3 CLINVAR
OMIM 211530 CLINVAR
  613350 CLINVAR