RGD:151842107 Rat Genome Database

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Variant: RGD:151842107 -  Homo sapiens

RGD ID: 151842107
RS ID: rs2110113831
ClinVar ID: CV1438313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRP72  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 57,340,369
GRCh38 4 56,474,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1151t1:c.498+6T>C
NM_001267722.2:c.498+6T>C
NM_006947.4:c.498+6T>C
LRG_1151:g.11608T>C
More... 		11/04/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SRP72
Accession:NM_006947
Location:INTRON

Gene Symbol:SRP72
Accession:NM_001267722
Location:INTRON

Gene Symbol:SRP72
Accession:XM_024454192
Location:INTRON

Gene Symbol:SRP72
Accession:NR_151856
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001921655 CLINVAR
dbSNP (RS) rs2110113831 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SRP72 CLINVAR
OMIM 602122 CLINVAR