RGD:405259327 Rat Genome Database

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Variant: RGD:405259327 -  Homo sapiens

RGD ID: 405259327
ClinVar ID: CV3194740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LAMA4-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 112,575,119
GRCh38 6 112,253,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001105207.3:c.195+39T>A
NM_002290.5:c.195+39T>A
NM_001105208.3:c.234T>A
NP_001098678.1:p.Pro78=
More... 		03/22/2021 intron variant likely benign LAMA4-related condition

Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:NM_001105209
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRLPPAAEVQCPCHCHPAGAPAP
PRAVPHSSFSLSPPLSSPQCLESFTWARSVRKLEIKSFPL*

Gene Symbol:LAMA4
Accession:NM_001105208
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSSAWRSVLPLWLLWSAACSRAASGDDNAFPFDIEGSSAVGRQDPPETSEPRVALGRLPPAAEVQCPCHCHPAGAPAP
PRAVPHSSFSLSPPLSSPQCLESFTWARSVRKLEIKSFPL*

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003894130 CLINVAR
NCBI Gene LAMA4 CLINVAR
  LAMA4-AS1 CLINVAR
OMIM 600133 CLINVAR