RGD:155962093 Rat Genome Database

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Variant: RGD:155962093 -  Homo sapiens

RGD ID: 155962093
ClinVar ID: CV2036730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG3L2  LOC107985154  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 12,344,180
GRCh38 18 12,344,181
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023361.1:g.38096G>C
NC_000018.10:g.12344181C>G
NC_000018.9:g.12344180C>G
NM_006796.2:c.1730G>C
More... 		10/01/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AFG3L2
Accession:NM_006796
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 577
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAAHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFG
RITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN*

Gene Symbol:AFG3L2
Accession:XM_011525601
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 577
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAAHAVAGWYLEHADPLLKIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILIND
AYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEK
EEPPGEKVAN*

Gene Symbol:LOC107985154
Accession:XR_001753363
Location:EXON;NON-CODING

Gene Symbol:LOC107985154
Accession:XR_002958227
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002776315 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AFG3L2 CLINVAR
OMIM 604581 CLINVAR