RGD:28867603 Rat Genome Database

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Variant: RGD:28867603 -  Homo sapiens

RGD ID: 28867603
RS ID: rs140998795
ClinVar ID: CV898266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSPH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 56,079,447
GRCh38 7 56,011,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004577.4:c.*8T>C
NG_011473.1:g.44822T>C
NM_001370514.1:c.*8T>C
NM_001370503.1:c.*8T>C
More... 		04/27/2017 3 prime utr variant benign Phosphoserine phosphatase deficiency; PSPH deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSPH
Accession:NM_001370514
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370503
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370520
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370508
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370512
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_017012469
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370504
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370515
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370518
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420648
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420646
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370513
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370522
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370505
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420653
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370509
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370506
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370519
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420650
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420652
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420651
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_004577
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370516
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370521
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_006715761
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370510
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420645
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370507
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420644
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_017012468
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370517
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420647
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_017012467
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:NM_001370511
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420649
Location:3UTRS;EXON

Gene Symbol:PSPH
Accession:XM_047420654
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161985 CLINVAR
dbSNP (RS) rs140998795 CLINVAR
MedGen C1291463 CLINVAR
NCBI Gene PSPH CLINVAR
OMIM 172480 CLINVAR
  614023 CLINVAR
SNOMED CT 124432005 CLINVAR