RGD:14726248 Rat Genome Database

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Variant: RGD:14726248 -  Homo sapiens

RGD ID: 14726248
RS ID: rs2075921
ClinVar ID: CV670837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 33,672,894
GRCh38 22 33,276,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_856t1:c.2073+152G>A
NM_001378625.1:c.2073+152G>A
NM_133642.5:c.2073+152G>A
NG_009929.2:g.648521G>A
More... 		06/19/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:XM_024452303
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_133642
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452302
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441604
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378626
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_004737
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378630
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833786 CLINVAR
dbSNP (RS) rs2075921 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR