RGD:13484138 Rat Genome Database

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Variant: RGD:13484138 -  Homo sapiens

RGD ID: 13484138
RS ID: rs761527779
ClinVar ID: CV451783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TIA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 70,463,301
GRCh38 2 70,236,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351517.2:c.-606C>T
NM_001351514.2:c.-72-5315C>T
NM_001351522.2:c.33C>T
NM_022037.4:c.33C>T
More... 		07/31/2018 5 prime utr variant|intron variant likely benign Distal myopathy, Swedish type; Gower's muscular dystrophy; MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT; Welander distal myopathy, Swedish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TIA1
Accession:NM_001351511
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351525
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351517
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351513
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351524
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351515
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351512
Location:5UTRS;EXON

Gene Symbol:TIA1
Accession:NM_001351523
Location:5UTRS;INTRON

Gene Symbol:TIA1
Accession:NM_001351514
Location:5UTRS;INTRON

Gene Symbol:TIA1
Accession:XM_005264528
Location:5UTRS;INTRON

Gene Symbol:TIA1
Accession:NM_022173
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDA
ENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQI
MEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQIGYPQPYGQWGQWYGNAQQIG
QYMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQPSGYRVAGYETQ*

Gene Symbol:TIA1
Accession:NM_001351510
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSNHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDAENAIQQMGGQW
LGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQIMEIRVFPDKGY
SFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQNQIGYPQPYGQWGQWYGNAQQIGQYMPNGWQVPAY
GMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQPSGYRVAGYETQ*

Gene Symbol:TIA1
Accession:NM_001351518
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDA
ENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYECRCIGEEKEMWNFGEKYARF*

Gene Symbol:TIA1
Accession:NM_001351520
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDVRTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKV
NWATTPSSQKKDTSSSTVVSTQRSQVLVHLHMDSHKLNGVMSGQPKLLAFEKTVKYFNIKLLQCKIISMSLLVISAQKLQ
LKI*

Gene Symbol:TIA1
Accession:NM_001351508
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDA
ENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQI
MEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQNQIGYPQPYGQWGQWYGNAQQIGQ
YMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQPSGYRVAGYETQ*

Gene Symbol:TIA1
Accession:NM_001351519
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWVS
SVRSAWIMLKE*

Gene Symbol:TIA1
Accession:XM_047445633
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQVLVHLHMDSHKLNGVMSGQPKLLAFEKTVKYFNIKLLQCKIISMSLLVISAQKLQLK
I*

Gene Symbol:TIA1
Accession:NM_022037
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSNHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDAENAIQQMGGQW
LGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQIMEIRVFPDKGY
SFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQIGYPQPYGQWGQWYGNAQQIGQYMPNGWQVPA
YGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQPSGYRVAGYETQ*

Gene Symbol:TIA1
Accession:NM_001351509
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDVRTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKV
NWATTPSSQKKDTSNHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDAENAIQQMGG
QWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQIMEIRVFPDK
GYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQIGYPQPYGQWGQWYGNAQQIGQYMPNGWQV
PAYGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQPSGYRVAGYETQ*

Gene Symbol:TIA1
Accession:NM_001351521
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSNHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWVSSVRSAWIMLKE
*

Gene Symbol:TIA1
Accession:XM_047445634
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQVLVHLHMDSHKLNGVMSGQPKLLAFEKTVKYFNIKLLQCKIISMSLLVISAQKLQLK
I*

Gene Symbol:TIA1
Accession:NM_001351516
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDA
ENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQI
MEIRVFPDKGYSFVR*

Gene Symbol:TIA1
Accession:NM_001351522
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKEVKVNW
ATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISVSLKNGQNCPG*

Gene Symbol:TIA1
Accession:NR_147226
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147218
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147217
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147223
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147231
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147221
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147219
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147230
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147229
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147224
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147225
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147216
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147220
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147222
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147227
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:NR_147228
Location:EXON;NON-CODING

Gene Symbol:TIA1
Accession:XM_047445631
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445630
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445632
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445628
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445627
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445629
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445626
Location:INTRON

Gene Symbol:TIA1
Accession:XM_047445625
Location:INTRON

Gene Symbol:TIA1
Accession:NR_147232
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000530190 CLINVAR
dbSNP (RS) rs761527779 CLINVAR
MedGen C0221054 CLINVAR
NCBI Gene TIA1 CLINVAR
OMIM 603518 CLINVAR
  604454 CLINVAR
SNOMED CT 58795000 CLINVAR