RGD:156125237 Rat Genome Database

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Variant: RGD:156125237 -  Homo sapiens

RGD ID: 156125237
ClinVar ID: CV2350172
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127820063  TSPAN4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 865,991
GRCh38 11 865,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003271.5:c.638C>T
NG_121530.1:g.229C>T
NC_000011.10:g.865991C>T
NC_000011.9:g.865991C>T
More... 		11/19/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TSPAN4
Accession:NM_003271
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025238
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025239
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025235
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025236
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025234
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:NM_001025237
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_005253102
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIITGAFVMAIGFVGCLGAIKENK
CLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVY
NATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAMTMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_011520338
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_011520341
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_011520339
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARACLQAVKYLMFAFNLLFWFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_011520337
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*

Gene Symbol:TSPAN4
Accession:XM_011520340
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLKKGLHLYGTQGNVGLTNAWSIIQTD
FRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLHAPGTWWKAPCYETVKVWLQENLLAVGIFGLCTVLVQILGLTFAM
TMYCQVVKADTYCA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004200087 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TSPAN4 CLINVAR
OMIM 602644 CLINVAR