RGD:401760886 Rat Genome Database

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Variant: RGD:401760886 -  Homo sapiens

RGD ID: 401760886
ClinVar ID: CV2695196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,328,144
GRCh38 22 20,973,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018060.3:c.343C>T
NM_001386814.1:c.343C>T
NM_144704.3:c.343C>T
NM_001146288.2:c.361C>T
More... 		03/24/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AIFM3
Accession:NM_001146288
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCFSKPKPGAALPTVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHPYPSPQDCVEAAVCH
VKDLENGQMREVELGWGKVLLVKDNGEFHALGHKCPHYGASLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKF
QVKIEKEKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLCTLDRHLPYD
RPKLSKSLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSSPKTLSCKGKEVENV
FTIRTPEDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGERVGRALMKMFENNRVKFYMQ
TEVSELRGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIPVNKMMQTNVPGVFAAGDAVTFPLA
WRNNRKVNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDLEELKFVAFYTKGDE
VIAVASMNYDPIVSKVAEVLASGRAIRKREVETGDMSWLTGKGS*

Gene Symbol:AIFM3
Accession:NM_144704
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHPYPSPQDCVEAAVCHVKDLEN
GQMREVELGWGKVLLVKDNGEFHALGHKCPHYGASLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKFQVKIEK
EKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLCTLDRHLPYDRPKLSK
SLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSSPKTLSCKGKEVENVFTIRTP
EDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGERVGRALMKMFENNRVKFYMQTEVSEL
RGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIPVNKMMQTNVPGVFAAGDAVTFPLAWRNNRK
VNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDLEELKFVAFYTKGDEVIAVAS
MNYDPIVSKVAEVLASGRAIRKREVELFVLHSKTGDMSWLTGKGS*

Gene Symbol:AIFM3
Accession:NM_001018060
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHPYPSPQDCVEAAVCHVKDLEN
GQMREVELGWGKVLLVKDNGEFHALGHKCPHYGASLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKFQVKIEK
EKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLCTLDRHLPYDRPKLSK
SLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSSPKTLSCKGKEVENVFTIRTP
EDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGERVGRALMKMFENNRVKFYMQTEVSEL
RGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIPVNKMMQTNVPGVFAAGDAVTFPLAWRNNRK
VNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDLEELKFVAFYTKGDEVIAVAS
MNYDPIVSKVAEVLASGRAIRKREVETGDMSWLTGKGS*

Gene Symbol:AIFM3
Accession:NM_001386814
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHPYPSPQDCVEAAVCHVKDLEN
GQMREVELGWGKVLLVKDNGEFHALGHKCPHYGASLVKGVLSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKFQVKIEK
EKVYVRASKQALQLQRRTKVMAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLCTLDRHLPYDRPKLSK
SLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSSPKTLSCKGKEVENVFTIRTP
EDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSVVELEETPFRRFLGERVGRALMKMFENNRVKFYMQTEVSEL
RGQEGKLKEVVLKSSKVVRADVCVVGIGAVPATGFLRQSGIGLDSRGFIPVNKMMQTNVPGVFAAGDAVTFPLAWRNNRK
VNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDLEELKFVAFYTKGDEVIAVAS
MNYDPIVSKVAEVLASGRAIRKREVELFVLHSKTGDMSWLTGKGS*

Gene Symbol:AIFM3
Accession:NR_027464
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004303338 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AIFM3 CLINVAR
OMIM 617298 CLINVAR