RGD:150489550 Rat Genome Database

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Variant: RGD:150489550 -  Homo sapiens

RGD ID: 150489550
RS ID: rs3013446
ClinVar ID: CV1268919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPN14  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 214,558,228
GRCh38 1 214,384,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005401.5:c.1067-97T>C
NG_028036.1:g.171797T>C
NC_000001.11:g.214384885A>G
NC_000001.10:g.214558228A>G
 11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PTPN14
Accession:NM_005401
Location:INTRON

Gene Symbol:PTPN14
Accession:XM_017001941
Location:INTRON

Gene Symbol:PTPN14
Accession:XM_024448759
Location:INTRON

Gene Symbol:PTPN14
Accession:XM_047426367
Location:INTRON

Gene Symbol:PTPN14
Accession:XM_047426370
Location:INTRON

Gene Symbol:PTPN14
Accession:XM_047426374
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001687483 CLINVAR
dbSNP (RS) rs3013446 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTPN14 CLINVAR
OMIM 603155 CLINVAR