RGD:12739072 Rat Genome Database

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Variant: RGD:12739072 -  Homo sapiens

RGD ID: 12739072
RS ID: rs761953453
ClinVar ID: CV361079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIFM1  RAB33A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 129,264,069
GRCh38 X 130,130,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013217.1:g.40740C>T
NC_000023.11:g.130130094G>A
NC_000023.10:g.129264069G>A
NP_004199.1:p.Ala549Val
More... 		11/05/2018 3 prime utr variant likely pathogenic|uncertain significance Charcot-Marie-Tooth disease with deafness and mental retardation; CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX 4; Cowchock syndrome; Hypomyelinating leukodystrophy; Leukoencephalopathy with metaphyseal chondrodysplasia; Metachromatic leukodystrophy variant; Neuropathy, axonal motor-sensory with deafness and mental retardation; none provided; SEMD X-linked with mental deterioration; Spondyloepimetaphyseal dysplasia X-linked with mental deterioration; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Leukodystrophy  (IAGP)

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

Gene Symbol:AIFM1
Accession:NM_145812
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 545
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPVVQSHHLGSPSRSLASTGASGKDGSNLVYFLIVGATVTGAGVYYA
YKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSE
DPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVK
LNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKAR
ALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNV
ELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWS
DLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPEVPQAPVQGEDYGKGV
IFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NM_004208
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 549
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGLSTVGA
GAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVL
IVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALG
RKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGL
EPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPEVPQAPVQGEDY
GKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

Gene Symbol:AIFM1
Accession:NM_001130846
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFG
GFRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVD
SSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPEVPQAPVQGEDYGKGVIFYLRDKVVVGIVLW
NIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED*

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

Gene Symbol:RAB33A
Accession:XM_017029963
Location:INTRON

Gene Symbol:RAB33A
Accession:NM_004794
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28842795  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000414973 CLINVAR
  RCV001198204 CLINVAR
  RCV002307493 CLINVAR
  RCV002470855 CLINVAR
dbSNP (RS) rs761953453 CLINVAR
MedGen C0023520 CLINVAR
  C0795910 CLINVAR
  C1846148 CLINVAR
  C3661900 CLINVAR
NCBI Gene AIFM1 CLINVAR
  RAB33A CLINVAR
OMIM 300169 CLINVAR
  300232 CLINVAR
  300333 CLINVAR
  300660 CLINVAR
  310490 CLINVAR