RGD:12846409 Rat Genome Database

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Variant: RGD:12846409 -  Homo sapiens

RGD ID: 12846409
RS ID: rs145707160
ClinVar ID: CV380133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHM  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 85,233,820
GRCh38 X 85,978,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_699:g.73747A>T
NG_009874.2:g.73747A>T
NC_000023.11:g.85978816T>A
NC_000023.10:g.85233820T>A
More... 		03/27/2019 5 prime utr variant|missense variant benign AllHighlyPenetrant; none provided; Progressive tapetochoroidal dystrophy
Disease Annotations     Click to see Annotation Detail View
Choroideremia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Choroideremia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CHM
Accession:NM_001320959
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:NM_001362517
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:NM_001362518
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:XM_047441793
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:XM_047441794
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:NM_001362519
Location:5UTRS;EXON

Gene Symbol:CHM
Accession:NM_000390
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQIL
ENEEAIALCRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPS
SDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRG
LLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITF
YEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCL
RHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAE
EPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDI
SRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFK
ESTNLGNLEESSE*

Gene Symbol:CHM
Accession:XM_017029242
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQIL
ENEEAIALCRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPS
SDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRG
LLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITF
YEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCL
RHSVQCLVVDKESRKCKAIIDQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAE
EPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDI
SRSCYNDLPSNVYVCSGPDCGLGNDNAVKQELPLLLLRSIVK*

Gene Symbol:CHM
Accession:NM_001145414
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQIL
ENEEAIALCRKDKTIQHVEVFCYARSTLLL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000441588 CLINVAR
  RCV001000512 CLINVAR
  RCV001522389 CLINVAR
dbSNP (RS) rs145707160 CLINVAR
MedGen C0008525 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHM CLINVAR
OMIM 300390 CLINVAR
  303100 CLINVAR
SNOMED CT 75241009 CLINVAR