RGD:156041080 Rat Genome Database

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Variant: RGD:156041080 -  Homo sapiens

RGD ID: 156041080
ClinVar ID: CV1891050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG3L2  TUBB6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 12,329,646
GRCh38 18 12,329,647
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.10:g.12329647G>A
LRG_666t1:c.2312C>T
NM_001303525.2:c.*464G>A
NM_006796.3:c.2312C>T
More... 		08/01/2022 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBB6
Accession:NM_001303525
Location:3UTRS;EXON

Gene Symbol:AFG3L2
Accession:NM_006796
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 771
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFG
RITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDT*LPEGLKDWNKEREKEKEEPPGEKVAN*

Gene Symbol:AFG3L2
Accession:XM_011525601
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 704
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILIND
AYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDT*LPEGLKDWNKEREKEK
EEPPGEKVAN*

Gene Symbol:TUBB6
Accession:NM_001303527
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303528
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303529
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303524
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_032525
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303530
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303526
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003078520 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AFG3L2 CLINVAR
  TUBB6 CLINVAR
OMIM 604581 CLINVAR
  615103 CLINVAR