RGD:150443216 Rat Genome Database

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Variant: RGD:150443216 -  Homo sapiens

RGD ID: 150443216
RS ID: rs62129356
ClinVar ID: CV1249247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127890114  SH3GL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 4,400,314
GRCh38 19 4,400,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199943.2:c.45+7G>A
NM_001199944.2:c.45+7G>A
NM_003025.4:c.45+7G>A
NG_028084.1:g.5252G>A
More... 		06/19/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SH3GL1
Accession:XM_047439222
Location:5UTRS;INTRON

Gene Symbol:SH3GL1
Accession:NM_001199944
Location:INTRON

Gene Symbol:SH3GL1
Accession:XM_017027146
Location:INTRON

Gene Symbol:SH3GL1
Accession:NM_003025
Location:INTRON

Gene Symbol:SH3GL1
Accession:NM_001199943
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001666679 CLINVAR
dbSNP (RS) rs62129356 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SH3GL1 CLINVAR
OMIM 601768 CLINVAR