RGD:13529808 Rat Genome Database

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Variant: RGD:13529808 -  Homo sapiens

RGD ID: 13529808
RS ID: rs917246646
ClinVar ID: CV508122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 34,252,736
GRCh38 22 33,856,748
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004737.4:c.-91G>A
NG_009929.2:g.68681G>A
NC_000022.10:g.34252736C>T
NC_000022.11:g.33856748C>T
More... 		11/28/2017 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:XM_024452302
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_004737
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_024452303
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:5UTRS;EXON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:XM_047441604
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_133642
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_001378626
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:5UTRS;INTRON

Gene Symbol:LARGE1
Accession:XR_007067994
Location:EXON;NON-CODING

Gene Symbol:LARGE1
Accession:XR_007067993
Location:EXON;NON-CODING

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378630
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:INTRON

Gene Symbol:LARGE1
Accession:XR_002958722
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000600450 CLINVAR
dbSNP (RS) rs917246646 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR