RGD:15112016 Rat Genome Database

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Variant: RGD:15112016 -  Homo sapiens

RGD ID: 15112016
RS ID: rs61730042
ClinVar ID: CV729456
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRE  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 151,123,389
GRCh38 X 151,954,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.151123389C>G
NM_004961.3:c.1305G>C
NP_004952.2:p.Glu435Asp
NG_012511.1:g.24763G>C
More... 		05/09/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GABRE
Accession:XM_024452360
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDA
GCSLHMLRFPMDSHSCPLSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNV
SRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFC
ALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGS
PDGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL*

Gene Symbol:GABRE
Accession:XM_047441959
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDA
GCSLHMLRFPMDSHSCPLSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNV
SRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFC
ALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGS
PDGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL*

Gene Symbol:GABRE
Accession:XM_011531140
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIK
TESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRI
NSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGSPDGPRSLCSKLACCEWCKRFKKYFCMVPD
CEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL*

Gene Symbol:GABRE
Accession:XM_047441960
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEYTIDIIFSQTWNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCPLSFSSFSYPENEMIY
KWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTES
APARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSR
AHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGSPDGPRSLCSKLACCEWCKRFKKYFCMVPDCEG
STWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL*

Gene Symbol:GABRE
Accession:NM_004961
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETETGSRVGKLPEASRILNTILS
NYDHKLRPGIGEKPTVVTVEISVNSLGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNS
KRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCPLSFSSFSYPENEMIYKWENFKLEINEKNSW
KLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTM
TTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQ
HQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGSPDGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRL
DNYSRVVFPVTFFFFNVLYWLVCLNL*

Gene Symbol:GABRE
Accession:XM_017029388
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPCPTRWSASTRMARCCTQLVSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNV
SRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFC
ALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGS
PDGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000894385 CLINVAR
dbSNP (RS) rs61730042 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GABRE CLINVAR
OMIM 300093 CLINVAR