RGD:156212650 Rat Genome Database

Variant: RGD:156212650 - Homo sapiens

RGD ID:

156212650

ClinVar ID:

CV2028489

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SNAP25

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	10,277,684
GRCh38	20	10,297,036

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
NM_001322902.2:c.393C>A NM_001322903.2:c.393C>A NM_001322904.2:c.393C>A NM_001322905.2:c.393C>A More...	12/20/2021	synonymous variant	likely benign	MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA

Disease Annotations Click to see Annotation Detail View

congenital myasthenic syndrome 18 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SNAP25
Accession:	NM_130811
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322909
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322902
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322904
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322908
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	XM_047440391
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRR*

Gene Symbol:	SNAP25
Accession:	NM_001322910
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001424416
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322903
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	XM_017028022
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322906
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001424415
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_003081
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322907
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Gene Symbol:	SNAP25
Accession:	NM_001322905
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002711824	CLINVAR
MedGen	C4225364	CLINVAR
NCBI Gene	SNAP25	CLINVAR
OMIM	600322	CLINVAR
	616330	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)

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Variant: RGD:156212650 - Homo sapiens

Imported Disease Annotations - ClinVar