RGD:11615054 Rat Genome Database

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Variant: RGD:11615054 -  Homo sapiens

RGD ID: 11615054
RS ID: rs879195140
ClinVar ID: CV339757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PITPNM3  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 6,355,204
GRCh38 17 6,451,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016020.1:g.109673_109674insA
NC_000017.11:g.6451884_6451885insT
NC_000017.10:g.6355204_6355205insT
NM_001165966.2:c.*3453_*3454insA
More...
06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PITPNM3
Accession:NM_001165966
Location:3UTRS;EXON

Gene Symbol:PITPNM3
Accession:NM_031220
Location:3UTRS;EXON

Gene Symbol:PITPNM3
Accession:XM_011524016
Location:INTRON

Gene Symbol:PITPNM3
Accession:XM_011524015
Location:INTRON

Gene Symbol:PITPNM3
Accession:XM_011524017
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282006 CLINVAR
dbSNP (RS) rs879195140 CLINVAR
MedGen CN239348 CLINVAR
NCBI Gene PITPNM3 CLINVAR
OMIM 608921 CLINVAR