RGD:13704253 Rat Genome Database

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Variant: RGD:13704253 -  Homo sapiens

RGD ID: 13704253
RS ID: rs139336504
ClinVar ID: CV538501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLC1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,502,514
GRCh38 22 50,064,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001376472.1:c.1008G>T
NM_001376473.1:c.1008G>T
NP_001363413.1:p.Gln257His
NP_001363411.1:p.Gln284His
More... 		07/31/2018 missense variant uncertain significance Leukoencephalopathy with swelling and cysts; Megalencephaly-cystic leukodystrophy; none provided; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLC1
Accession:NM_001376480
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGCIPSAIVSFTVSRRNANVIPN
FQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPF
PARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSP
LLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLHGASWDTQNGPQERL
AGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376473
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376472
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376478
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376476
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376483
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSINFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLG
GIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKD
YPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVV
VQMAQ*

Gene Symbol:MLC1
Accession:NM_001376477
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376481
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVINFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARV
LKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFT
ASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLHGASWDTQNGPQERLAGEV
ARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_139202
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376474
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_015166
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376484
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAAT
VIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVAC
FPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLN
TGTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376479
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVAVE
VLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLHGAS
WDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376475
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNT
GTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ*

Gene Symbol:MLC1
Accession:NM_001376482
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEM
DYLRCAAGSINFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLG
GIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKD
YPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLHGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVV
VQMAQ*

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

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

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660578 CLINVAR
  RCV002532018 CLINVAR
dbSNP (RS) rs139336504 CLINVAR
MedGen C3661900 CLINVAR
  C5779875 CLINVAR
NCBI Gene MLC1 CLINVAR
OMIM 604004 CLINVAR
  605908 CLINVAR