RGD:15100032 Rat Genome Database

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Variant: RGD:15100032 -  Homo sapiens

RGD ID: 15100032
RS ID: rs750807119
ClinVar ID: CV683089
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPTIN9  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 75,488,745
GRCh38 17 77,492,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_370t1:c.1369C>A
LRG_370:g.216254C>A
NP_001106967.2:p.Gln224Lys
NM_006640.5:c.1369C>A
More...
08/14/2019 missense variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEPTIN9
Accession:NM_001113492
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEA
APSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKIS
RKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIP
DTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSED
RLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKR
LNEGSSAMANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001113491
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 475
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKNSEPSARHVDS
LSQRSPKASLRRVELSGPKAAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQES
AHRRMEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQE
ATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFK
SKISRKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRK
KRIPDTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDE
DSEDRLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAY
RVKRLNEGSSAMANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_006640
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 457
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERDRISALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELSGP
KAAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQESAHRRMEPPASKVPEVPTA
PATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEAAPSCVGDMADTPRD
AGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPK
TIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPAT
GHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKFREMIPFA
VVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEE
KEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001113494
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEA
APSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKIS
RKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIP
DTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSED
RLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKR
LNEGSSAMANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001113493
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 468
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDPAVNAQLDGIISDFEALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKNSEPSARHVDSLSQRSPK
ASLRRVELSGPKAAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQESAHRRMEP
PASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEAAPS
CVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKS
VQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTR
VHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLV
NEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNE
GSSAMANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001113496
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPT
SEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCC
LYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKF
REMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSA
MANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001113495
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPT
SEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCC
LYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKF
REMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSA
MANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001293695
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 456
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKSYSALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELSGPK
AAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQESAHRRMEPPASKVPEVPTAP
ATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQEATEAAPSCVGDMADTPRDA
GLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKT
IEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATG
HSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKFREMIPFAV
VGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEEK
EPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001293696
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAGCTGTWSWLWGTATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVV
GQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFIN
DQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITAD
LLSNGIDVYPKKEFDEDSEDRLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTH
MQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001293697
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPT
SEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCC
LYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKF
REMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSA
MANGMEEKEPEAPEM*

Gene Symbol:SEPTIN9
Accession:NM_001293698
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPT
SEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCC
LYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPKKEFDEDSEDRLVNEKF
REMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSA
MANGMEEKEPEAPEM*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000857036 CLINVAR
dbSNP (RS) rs750807119 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene SEPTIN9 CLINVAR
OMIM 604061 CLINVAR
SNOMED CT 50548001 CLINVAR