RGD:13504421 Rat Genome Database

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Variant: RGD:13504421 -  Homo sapiens

RGD ID: 13504421
RS ID: rs1556262326
ClinVar ID: CV446497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM1  RAB33A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 129,270,692
GRCh38 X 130,136,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004208.4:c.1090A>G
NM_004208.3:c.1090A>G
NP_001124318.2:p.Met25Val
NP_665811.1:p.Met360Val
More... 		09/22/2017 3 prime utr variant|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AIFM1
Accession:NM_001130847
Location:3UTRS;EXON

Gene Symbol:AIFM1
Accession:NM_145812
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPVVQSHHLGSPSRSLASTGASGKDGSNLVYFLIVGATVTGAGVYYA
YKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSE
DPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVK
LNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKAR
ALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVLPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNV
ELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWS
DLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGV
IFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NM_001130846
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKILPEYLSNWTMEKVRREGVKVLPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFG
GFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVD
SSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLW
NIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NM_004208
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGA
GAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVL
IVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALG
RKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVLPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGL
EPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDY
GKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NR_132647
Location:EXON;NON-CODING

Gene Symbol:RAB33A
Accession:NM_004794
Location:INTRON

Gene Symbol:RAB33A
Accession:XM_017029963
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000519178 CLINVAR
dbSNP (RS) rs1556262326 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AIFM1 CLINVAR
  RAB33A CLINVAR
OMIM 300169 CLINVAR
  300333 CLINVAR