RGD:156268170 Rat Genome Database

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Variant: RGD:156268170 -  Homo sapiens

RGD ID: 156268170
ClinVar ID: CV2135134
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LAMA4-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 112,575,154
GRCh38 6 112,253,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001105208.1:c.199C>T
LRG_433p1:p.Gln67Ter
LRG_433t1:c.199C>T
NM_001105206.3:c.195+4C>T
More... 		01/11/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:NM_001105209
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRLPPAAEVKCPCHCHPAGAPAP
PRAVPHSSFSLSPPLSSPQCLESFTWARSVRKLEIKSFPL*

Gene Symbol:LAMA4
Accession:NM_001105208
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRLPPAAEVKCPCHCHPAGAPAP
PRAVPHSSFSLSPPLSSPQCLESFTWARSVRKLEIKSFPL*

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4-AS1
Accession:NR_121193
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002988722 CLINVAR
MedGen C3808935 CLINVAR
NCBI Gene LAMA4 CLINVAR
  LAMA4-AS1 CLINVAR
OMIM 600133 CLINVAR
  615235 CLINVAR