RGD:9686940 Rat Genome Database

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Variant: RGD:9686940 -  Homo sapiens

RGD ID: 9686940
RS ID: rs193920948
ClinVar ID: CV171549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  PIGH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 68,059,355
GRCh38 14 67,592,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000014.9:g.67592638G>C
NC_000014.8:g.68059355G>C
NP_004560.1:p.Phe157Leu
NM_004569.3:c.471C>G
More... 		missense variant uncertain significance adulthood 1-9 / 100 000 Prostate cancer
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PIGH
Accession:XM_011536838
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYL
HFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQRQ
SLTLSPRLECSDNHHSLQPPPPRLKKSSCLSLLRTWDYRVPSPGWTA*

Gene Symbol:PIGH
Accession:XM_017021371
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYL
HFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMKVIYYLCILLKDPVEPHGISQVVPVFQRQS
LTLSPRLECSDNHHSLQPPPPRLKKSSCLSLLRTWDYRVPSPGWTA*

Gene Symbol:PIGH
Accession:NM_004569
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYL
HFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSA
KPRLDCLIEVYRSCQEILAHQKATSTSP*

Gene Symbol:PIGH
Accession:NM_001363694
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYL
HFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMKVIYYLCILLKDPVEPHGISQVVPVFQSAK
PRLDCLIEVYRSCQEILAHQKATSTSP*

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23265383  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149159 CLINVAR
dbSNP (RS) rs193920948 CLINVAR
MedGen C0376358 CLINVAR
NCBI Gene GPHN CLINVAR
  PIGH CLINVAR
OMIM 176807 CLINVAR
  600154 CLINVAR
  603930 CLINVAR
SNOMED CT 399068003 CLINVAR