rs1285632115 Rat Genome Database

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Variant: rs1285632115 -  Homo sapiens

RGD ID: 21067692
RS ID: rs1285632115
ClinVar ID: CV793710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG3L2  LOC127888830  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 12,376,969
GRCh38 18 12,376,970
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006796.3:c.113C>A
LRG_666:g.5307C>A
NG_023361.1:g.5307C>A
NC_000018.10:g.12376970G>T
More... 		10/11/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AFG3L2
Accession:XM_011525601
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRKLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILIND
AYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEK
EEPPGEKVAN*

Gene Symbol:AFG3L2
Accession:NM_006796
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRKLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFG
RITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000992826 CLINVAR
dbSNP (RS) rs1285632115 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AFG3L2 CLINVAR
OMIM 604581 CLINVAR