RGD:405771230 Rat Genome Database

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Variant: RGD:405771230 -  Homo sapiens

RGD ID: 405771230
ClinVar ID: CV3262769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 71,873,987
GRCh38 10 70,114,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198696.2:c.1069C>T
NM_032797.6:c.1069C>T
NC_000010.11:g.70114231G>A
NC_000010.10:g.71873987G>A
More... 		11/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AIFM2
Accession:NM_032797
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQVSVESGALHVVIVGGGFGGIAAASQLQALNVPFMLVDMKDSFHHNVAALRASVETGFAKKTFISYSVTFKDNFRQG
LVVGIDLKNQMVLLQGGEALPFSHLILATGSTGPFPGKFNEVSSQQAAIQAYEDMVRQVQRSRFIVVVGGGSAGVEMAAE
IKTEYPEKEVTLIHSQVALADKELLPSVRQEVKEILLRKGVQLLLSERVSNLEELPLNEYREYIKVQTDKGTEVATNLVI
LCTGIKINSSAYRKAFESRLASSGALRVNEHLQVEGHSNVYAIGDCADVRTPKMAYLAGLHANIAVANIVNSVKQRPLQA
YKPGALTFLLSMGRNDGVGQISGFYVGRLMVRLTKSWDLFVSTSWKTMRQSPP*

Gene Symbol:AIFM2
Accession:NM_001198696
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQVSVESGALHVVIVGGGFGGIAAASQLQALNVPFMLVDMKDSFHHNVAALRASVETGFAKKTFISYSVTFKDNFRQG
LVVGIDLKNQMVLLQGGEALPFSHLILATGSTGPFPGKFNEVSSQQAAIQAYEDMVRQVQRSRFIVVVGGGSAGVEMAAE
IKTEYPEKEVTLIHSQVALADKELLPSVRQEVKEILLRKGVQLLLSERVSNLEELPLNEYREYIKVQTDKGTEVATNLVI
LCTGIKINSSAYRKAFESRLASSGALRVNEHLQVEGHSNVYAIGDCADVRTPKMAYLAGLHANIAVANIVNSVKQRPLQA
YKPGALTFLLSMGRNDGVGQISGFYVGRLMVRLTKSWDLFVSTSWKTMRQSPP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004395968 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AIFM2 CLINVAR
OMIM 605159 CLINVAR