RGD:14718149 Rat Genome Database

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Variant: RGD:14718149 -  Homo sapiens

RGD ID: 14718149
RS ID: rs2072019
ClinVar ID: CV661488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMA4  LOC107986633  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 112,460,541
GRCh38 6 112,139,339
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.3090-48C>T
NM_002290.5:c.3090-48C>T
NG_008209.1:g.120288C>T
NC_000006.12:g.112139339G>A
More...
06/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMA4
Accession:XM_047418770
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418771
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_002290
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105207
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266984
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_047418769
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_017010854
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105206
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105209
Location:INTRON

Gene Symbol:LAMA4
Accession:NM_001105208
Location:INTRON

Gene Symbol:LAMA4
Accession:XM_005266983
Location:INTRON

Gene Symbol:LOC107986633
Accession:XR_001744299
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830300 CLINVAR
dbSNP (RS) rs2072019 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMA4 CLINVAR
OMIM 600133 CLINVAR