RGD:597761029 Rat Genome Database

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Variant: RGD:597761029 -  Homo sapiens

RGD ID: 597761029
ClinVar ID: CV3609443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBC1D22A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 47,189,529
GRCh38 22 46,793,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001284305.2:c.110T>C
NM_001284304.2:c.161T>C
NM_001284303.2:c.194T>C
NM_001410803.1:c.251T>C
More... 		11/09/2024 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TBC1D22A
Accession:NM_014346
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID
EQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLF
LQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:TBC1D22A
Accession:NM_001284304
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWEPQPDVGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLATAAESLNSEVVMETANRVLRNHSQRQG
RPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSAL
SEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRND
EVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSG
VPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREV
PLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFAD
APNHYKK*

Gene Symbol:TBC1D22A
Accession:NM_001284303
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLATAAESLNSEVVMETAN
RVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLSWSGIPKPVRPMTWKLLSGY
LPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGY
VQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSR
IDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELL
LFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:TBC1D22A
Accession:NM_001284305
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPE
AEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAG
PNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRM
SPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCM
SKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPD
GFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:TBC1D22A
Accession:XM_011530100
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID
V*

Gene Symbol:TBC1D22A
Accession:XM_011530102
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIGQLHLCPTWDSNESENVRRTREPD*

Gene Symbol:TBC1D22A
Accession:XM_011530101
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQE*

Gene Symbol:TBC1D22A
Accession:XM_017028742
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR
HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDG
FSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:TBC1D22A
Accession:XM_017028743
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID
EQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQKSPWA
PLWADSKPHICEEWTLSTFWLGRENSKEMIDLQQKAVPPLTTPFLLSAPK*

Gene Symbol:TBC1D22A
Accession:XM_017028746
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQLKNVKKIQHYIDT*

Gene Symbol:TBC1D22A
Accession:XM_017028747
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIDVLHSWIDALVFTRKAASTWARAQRC*

Gene Symbol:TBC1D22A
Accession:XM_047441306
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR
HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDG
FSHFHLYVCAAFLVRWRKEILEEKDFQKSPWAPLWADSKPHICEEWTLSTFWLGRENSKEMIDLQQKAVPPLTTPFLLSA
PK*

Gene Symbol:TBC1D22A
Accession:XM_047441307
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR
HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDV*

Gene Symbol:TBC1D22A
Accession:XM_047441308
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAA
PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ
GINDLVTPFFVVFICEYIGQLHLCPTWDSNESENVRRTREPD*

Gene Symbol:TBC1D22A
Accession:XM_047441309
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLS
WSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVT
EIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIGQLHLCPTWDSNESENVRRTREPD*

Gene Symbol:TBC1D22A
Accession:NM_001410803
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE
LLATAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLS
WSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVT
EIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYT
FAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAA
FLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:TBC1D22A
Accession:NR_104292
Location:EXON;NON-CODING

Gene Symbol:TBC1D22A
Accession:XR_007067971
Location:EXON;NON-CODING

Gene Symbol:TBC1D22A
Accession:XR_007067970
Location:EXON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004869337 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TBC1D22A CLINVAR
OMIM 616879 CLINVAR