RGD:21073183 Rat Genome Database

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Variant: RGD:21073183 -  Homo sapiens

RGD ID: 21073183
RS ID: rs1600807788
ClinVar ID: CV791967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNAP25  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 10,286,777
GRCh38 20 10,306,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322902.2:c.553G>C
NM_001322903.2:c.553G>C
NM_001322904.2:c.553G>C
NM_001322905.2:c.553G>C
More... 		05/28/2019 missense variant likely pathogenic MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SNAP25
Accession:NM_001322905
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_003081
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322909
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_130811
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322907
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322902
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322910
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322904
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001424415
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322903
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322908
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:XM_017028022
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001322906
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLDRVEEGMNHINQDMKEAEKNLKD
LGKCCGLFICPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:NM_001424416
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD
LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL
RHMALDMGNEIDTQNRQIDRIMEKPDSNKTRIDEANQRATKMLGSG*

Gene Symbol:SNAP25
Accession:XM_047440391
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990282 CLINVAR
dbSNP (RS) rs1600807788 CLINVAR
MedGen C4225364 CLINVAR
NCBI Gene SNAP25 CLINVAR
OMIM 600322 CLINVAR
  616330 CLINVAR