RGD:15199396 Rat Genome Database

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Variant: RGD:15199396 -  Homo sapiens

RGD ID: 15199396
RS ID: rs138773679
ClinVar ID: CV722384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPK1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 144,380,049
GRCh38 7 144,682,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350887.1:c.-108T>C
NM_001350894.1:c.-108T>C
NM_001350885.1:c.-133-34077T>C
NM_001350893.1:c.-133-34077T>C
More... 		12/24/2018 5 prime utr variant likely benign ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPK1
Accession:XM_047420197
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:XM_024446717
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:XM_047420198
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:NM_001350886
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:NM_001350895
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:NM_001350894
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:NM_001350887
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:XM_047420199
Location:5UTRS;EXON

Gene Symbol:TPK1
Accession:NM_001350893
Location:5UTRS;INTRON

Gene Symbol:TPK1
Accession:NM_001350885
Location:5UTRS;INTRON

Gene Symbol:TPK1
Accession:NM_001350889
Location:5UTRS;INTRON

Gene Symbol:TPK1
Accession:XM_017011970
Location:EXON

Gene Symbol:TPK1
Accession:NM_001350880
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516034
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516040
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLILIISKGTQS
RQ*

Gene Symbol:TPK1
Accession:NM_001350882
Location:EXON

Gene Symbol:TPK1
Accession:XM_047420196
Location:EXON

Gene Symbol:TPK1
Accession:XM_011516039
Location:EXON

Gene Symbol:TPK1
Accession:NM_001042482
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516037
Location:EXON

Gene Symbol:TPK1
Accession:XM_011516031
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516032
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350881
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLRTCDYTRTTWIAKDNPVPRLIRLIRLNHICKVPLAI
K*

Gene Symbol:TPK1
Accession:XM_005249970
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_022445
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_047420195
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011971
Location:EXON

Gene Symbol:TPK1
Accession:XM_017011972
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLREGFKEIPIC
PAHADG*

Gene Symbol:TPK1
Accession:XM_047420194
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011969
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLRTCDYTRTTW
IAKDNPVPRLIRLIRLNHICKVPLAMRRI*

Gene Symbol:TPK1
Accession:NM_001350883
Location:EXON

Gene Symbol:TPK1
Accession:NM_001350884
Location:EXON

Gene Symbol:TPK1
Accession:XM_011516043
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWC
GLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420192
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516033
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516046
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKKKQ*

Gene Symbol:TPK1
Accession:NM_001350879
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NR_146936
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:NR_146934
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:XR_001744630
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:XM_017011980
Location:INTRON

Gene Symbol:TPK1
Accession:XM_017011981
Location:INTRON

Gene Symbol:TPK1
Accession:XM_011516047
Location:INTRON

Gene Symbol:TPK1
Accession:XM_011516048
Location:INTRON

Gene Symbol:TPK1
Accession:NR_146935
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001426958 CLINVAR
dbSNP (RS) rs138773679 CLINVAR
MedGen C3280866 CLINVAR
NCBI Gene TPK1 CLINVAR
OMIM 606370 CLINVAR
  614458 CLINVAR