RGD:156143497 Rat Genome Database

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Variant: RGD:156143497 -  Homo sapiens

RGD ID: 156143497
ClinVar ID: CV2383860
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASF3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 27,241,730
GRCh38 13 26,667,593
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001291965.1:c.345C>G
NM_006646.6:c.345C>G
NM_006646.5:c.345C>G
NP_001278894.1:p.Asn115Lys
More... 		06/24/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WASF3
Accession:XM_011534889
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_047430064
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKREKHKLNPNRNQQVNVRKVRTRKEEWERRKMGIEFMSDAKKLEQAGSAKEDRVPSGSHAS
DVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASAPMA
PADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGPPPP
PPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSRRIA
VEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_047430062
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKREKHKLNPNRNQQVNVRKVRTRKEEWERRKMGIEFMSDAKKLEQAGSAKEDRVPSGSHAS
DVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASAPMA
PADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGPPPP
PPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSRRIA
VEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_047430063
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKREKHKLNPNRNQQVNVRKVRTRKEEWERRKMGIEFMSDAKKLEQAGSAKEDRVPSGSHAS
DVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASAPMA
PADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGPPPP
PPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSRRIA
VEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_024449315
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_011534890
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_047430059
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:NM_001291965
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKREKHKLNPNRNQQVNVRKVRTRKEEWERRKMGIEFMSDAKKLEQAGSAKEDRVPSGSHAS
DVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASAPMA
PADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGPPPP
PPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSRRIA
VEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:XM_047430060
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*

Gene Symbol:WASF3
Accession:NM_006646
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEANNFYIRANSLQDRIDRLAVKV
TQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKKSIPNPVADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDL
WKEKMLQDTEDKRKEKRRQKEQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNRPQQPPPPPPPQAPEGSQASA
PMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFVSPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGP
PPPPPGPPGPGSSLSSSPMHGPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004231721 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WASF3 CLINVAR
OMIM 605068 CLINVAR