RGD:401905050 Rat Genome Database

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Variant: RGD:401905050 -  Homo sapiens

RGD ID: 401905050
ClinVar ID: CV2831186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG3L2  TUBB6  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 12,329,740
GRCh38 18 12,329,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.9:g.12329740C>G
LRG_666t1:c.2218G>C
NM_001303525.2:c.*558C>G
NM_006796.3:c.2218G>C
More... 		04/06/2023 3 prime utr variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

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

Gene Symbol:AFG3L2
Accession:XM_011525601
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 673
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILIND
AYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEK
EEPPGEKVAN*

Gene Symbol:AFG3L2
Accession:NM_006796
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 740
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFG
RITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN*

Gene Symbol:TUBB6
Accession:NM_001303524
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303528
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303526
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303530
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_032525
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303529
Location:INTRON

Gene Symbol:TUBB6
Accession:NM_001303527
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003443455 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AFG3L2 CLINVAR
  TUBB6 CLINVAR
OMIM 604581 CLINVAR
  615103 CLINVAR