RGD:21073361 Rat Genome Database

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Variant: RGD:21073361 -  Homo sapiens

RGD ID: 21073361
RS ID: rs137853269
ClinVar ID: CV792209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHEX  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 22,065,234
GRCh38 X 22,047,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.22065234G>C
NP_000435.3:p.Cys85Ser
NP_001269683.1:p.Cys85Ser
NM_000444.6:c.254G>C
More... 		10/14/2021 missense variant pathogenic|likely pathogenic Hypophosphatemia, vitamin D-resistant rickets; Hypophosphatemic Rickets, X-Linked Dominant; HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; none provided; Vitamin D-resistant rickets, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHEX
Accession:XM_024452390
Location:5UTRS;EXON

Gene Symbol:PHEX
Accession:NM_001282754
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNF
FRFASDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHIL
RHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKK
VIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLL
PQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFF
WGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTL
GENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHGQWCN*

Gene Symbol:PHEX
Accession:XM_047442159
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNF
FRFASDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHIL
RHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKK
VIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLL
PQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKVGPLSEY*

Gene Symbol:PHEX
Accession:NM_000444
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNF
FRFASDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHIL
RHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKK
VIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLL
PQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFF
WGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTL
GENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW*

Gene Symbol:PHEX
Accession:XM_011545533
Location:INTRON

Gene Symbol:PHEX
Accession:XM_017029579
Location:INTRON

Gene Symbol:PHEX
Accession:XM_011545536
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9106524   PMID:11502829   PMID:28492532   PMID:30682568  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000990506 CLINVAR
  RCV001869364 CLINVAR
dbSNP (RS) rs137853269 CLINVAR
MedGen C0733682 CLINVAR
  C3661900 CLINVAR
NCBI Gene PHEX CLINVAR
OMIM 300550 CLINVAR
  307800 CLINVAR
SNOMED CT 82236004 CLINVAR