RGD:13624736 Rat Genome Database

Variant: RGD:13624736 - Homo sapiens

RGD ID:

13624736

RS ID:

rs1553689859

ClinVar ID:

CV518980

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC6A1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	11,068,037
GRCh38	3	11,026,351

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_053003.1:g.38623C>T NC_000003.12:g.11026351C>T NC_000003.11:g.11068037C>T NP_003033.3:p.Ala357Val More...	10/15/2020	missense variant	pathogenic\|uncertain significance	Generalized myoclonic-atonic seizure; Myoclonic atonic seizures; none provided

Disease Annotations Click to see Annotation Detail View

Myoclonic Epilepsies (IAGP)

myoclonic-atonic epilepsy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized myoclonic-atonic seizure (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC6A1
Accession:	NM_001348251
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	237

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQM TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLS DSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASG PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNIT QGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMT PLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_005265411
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_001348252
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRG VTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVI FSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRN RRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKL CWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIV RPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_001348250
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_011534027
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_001348253
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRG VTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVI FSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRN RRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKL CWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIV RPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_017007072
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_003042
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_017007071
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	357

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVVASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532	PMID:28856709	PMID:29315614

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001092969	CLINVAR
	RCV003420145	CLINVAR
	RCV003444613	CLINVAR
	RCV003492124	CLINVAR
dbSNP (RS)	rs1553689859	CLINVAR
MedGen	C0393702	CLINVAR
	C3661900	CLINVAR
	CN231318	CLINVAR
NCBI Gene	SLC6A1	CLINVAR
OMIM	137165	CLINVAR
	616421	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13624736 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13624736 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar