RGD:11627928 Rat Genome Database

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Variant: RGD:11627928 -  Homo sapiens

RGD ID: 11627928
RS ID: rs41283494
ClinVar ID: CV352670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,499,582
GRCh38 22 50,061,153
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009162.1:g.29777A>G
NC_000022.11:g.50061153T>C
NC_000022.10:g.50499582T>C
NM_001376475.1:c.*430A>G
More... 		01/13/2018 3 prime utr variant uncertain significance Leukoencephalopathy with swelling and cysts; Megalencephaly-cystic leukodystrophy; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLC1
Accession:NM_001376475
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376484
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376479
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376472
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376473
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376481
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376483
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376474
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_015166
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376480
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_139202
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376482
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376476
Location:3UTRS;EXON

Gene Symbol:MLC1
Accession:NM_001376477
Location:3UTRS;INTRON

Gene Symbol:MLC1
Accession:NM_001376478
Location:3UTRS;INTRON

Gene Symbol:MLC1
Accession:NR_164811
Location:INTRON;NON-CODING

Gene Symbol:MLC1
Accession:NR_164813
Location:INTRON;NON-CODING

Gene Symbol:MLC1
Accession:NR_164812
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292206 CLINVAR
dbSNP (RS) rs41283494 CLINVAR
MedGen C5779875 CLINVAR
NCBI Gene MLC1 CLINVAR
OMIM 604004 CLINVAR
  605908 CLINVAR