RGD:407530621 Rat Genome Database

RGD:407530621 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:407530621 - Homo sapiens

RGD ID:

407530621

ClinVar ID:

CV3475491

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	47,193,349
GRCh38	22	46,797,452

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001284305.2:c.328A>T NM_001284304.2:c.379A>T NM_001284303.2:c.403+3611A>T NM_001410803.1:c.460+3611A>T More...	03/20/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	TBC1D22A
Accession:	NM_014346
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID EQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLF LQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:	TBC1D22A
Accession:	NM_001284304
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	127

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWEPQPDVGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQG RPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSAL SEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRND EVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSG VPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREV PLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFAD APNHYKK*

Gene Symbol:	TBC1D22A
Accession:	NM_001284305
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	110

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPE AEPPSPPSGDLRLVKSVSESHTSCPAESACDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAG PNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRM SPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCM SKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPD GFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:	TBC1D22A
Accession:	XM_011530100
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID V*

Gene Symbol:	TBC1D22A
Accession:	XM_011530102
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIGQLHLCPTWDSNESENVRRTREPD*

Gene Symbol:	TBC1D22A
Accession:	XM_011530101
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQE*

Gene Symbol:	TBC1D22A
Accession:	XM_017028742
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDG FSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK*

Gene Symbol:	TBC1D22A
Accession:	XM_017028743
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRID EQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQKSPWA PLWADSKPHICEEWTLSTFWLGRENSKEMIDLQQKAVPPLTTPFLLSAPK*

Gene Symbol:	TBC1D22A
Accession:	XM_017028746
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQLKNVKKIQHYIDT*

Gene Symbol:	TBC1D22A
Accession:	XM_017028747
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIDVLHSWIDALVFTRKAASTWARAQRC*

Gene Symbol:	TBC1D22A
Accession:	XM_047441306
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQSEPDG FSHFHLYVCAAFLVRWRKEILEEKDFQKSPWAPLWADSKPHICEEWTLSTFWLGRENSKEMIDLQQKAVPPLTTPFLLSA PK*

Gene Symbol:	TBC1D22A
Accession:	XM_047441307
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQTGLELLGSSELPMLASQSAGITDVR HRARPQNDNYTFAQPGIQMKVKMLEELVSRIDV*

Gene Symbol:	TBC1D22A
Accession:	XM_047441308
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDE LLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESACDAA PLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQ GINDLVTPFFVVFICEYIGQLHLCPTWDSNESENVRRTREPD*

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

Gene Symbol:	TBC1D22A
Accession:	NM_001284303
Location:	INTRON

Gene Symbol:	TBC1D22A
Accession:	XM_047441309
Location:	INTRON

Gene Symbol:	TBC1D22A
Accession:	NM_001410803
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004682005	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	TBC1D22A	CLINVAR
OMIM	616879	CLINVAR