RGD:8560006 Rat Genome Database

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Variant: RGD:8560006 -  Homo sapiens

RGD ID: 8560006
RS ID: rs104894179
ClinVar ID: CV22623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHYH  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,325,713
GRCh38 10 13,283,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_012862.1:g.21418A>C
NC_000010.11:g.13283713T>G
NC_000010.10:g.13325713T>G
NP_006205.1:p.Asn269His
More... 		02/26/2015 missense|missense variant pathogenic 1/200,000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHYH
Accession:NM_006214
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR
FRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLIN
KPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYE
ENKARVHLVMEKGDTVFFHPLLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNL
KDIWMFRARLVKGERTNL*

Gene Symbol:PHYH
Accession:NM_001323082
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR
FRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLIN
KPPDSGNCKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQD
YEENKARVHLVMEKGDTVFFHPLLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSV
NLKDIWMFRARLVKGERTNL*

Gene Symbol:PHYH
Accession:NM_001037537
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHY
FPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHP
LLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL*

Gene Symbol:PHYH
Accession:NM_001323084
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGNCKKTSRHPLHQDL
HYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFF
HPLLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL
*

Gene Symbol:PHYH
Accession:NM_001323080
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHY
FPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHP
LLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL*

Gene Symbol:PHYH
Accession:NM_001323083
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQR
FRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEGGVNKMFHGIQDYEENKARVHL
VMEKGDTVFFHPLLIHGSGQHKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRA
RLVKGERTNL*
Variant Samples
Additional References at PubMed
PMID:2433405   PMID:9326940  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008022 CLINVAR
dbSNP (RS) rs104894179 CLINVAR
MedGen C2749345 CLINVAR
NCBI Gene PHYH CLINVAR
OMIM 602026 CLINVAR
OMIM Allele 602026.0004 CLINVAR