RGD:13531828 Rat Genome Database

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Variant: RGD:13531828 -  Homo sapiens

RGD ID: 13531828
RS ID: rs891049157
ClinVar ID: CV512588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM1  RAB33A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 129,289,210
GRCh38 X 130,155,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.129289210C>G
NG_013217.1:g.15599G>C
NC_000023.11:g.130155235C>G
NP_665811.1:p.Gly53Ala
More... 		07/30/2015 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIFM1
Accession:NM_145812
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPVVQSHHLGSPSRSLASTGASGKDGSNLVYFLIVGATVTGAGVYYA
YKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSE
DPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVK
LNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKAR
ALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNV
ELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWS
DLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGV
IFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NM_001130847
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_001130846
Location:INTRON

Gene Symbol:RAB33A
Accession:XM_017029963
Location:INTRON

Gene Symbol:RAB33A
Accession:NM_004794
Location:INTRON

Gene Symbol:AIFM1
Accession:NM_004208
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:3856385   PMID:20362274   PMID:20818383   PMID:22019070   PMID:23217327   PMID:25583628   PMID:25934856   PMID:25986071   PMID:26173962   PMID:27102849   PMID:28842795  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000623671 CLINVAR
dbSNP (RS) rs891049157 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AIFM1 CLINVAR
  RAB33A CLINVAR
OMIM 300169 CLINVAR
  300333 CLINVAR