RGD:14722208 Rat Genome Database

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Variant: RGD:14722208 -  Homo sapiens

RGD ID: 14722208
RS ID: rs6917142
ClinVar ID: CV661082
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 112,435,796
GRCh38 6 112,114,593
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.5185+70C>G
NM_002290.5:c.5185+70C>G
NM_001105206.3:c.5206+70C>G
NG_008209.1:g.145033C>G
More...
06/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832004 CLINVAR
dbSNP (RS) rs6917142 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR