RGD:126924200 Rat Genome Database

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Variant: RGD:126924200 -  Homo sapiens

RGD ID: 126924200
RS ID: rs2131889336
ClinVar ID: CV1045870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,588,077
GRCh38 9 127,825,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_589t1:c.586T>A
NM_001278138.2:c.40T>A
NM_001114753.3:c.586T>A
LRG_589:g.33971T>A
More... 		02/21/2020 missense variant uncertain significance ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; Osler-Rendu-Weber disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ENG
Accession:NM_001406715
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLERRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAVRELLPLWLRMTWTSGSSPSPR
LLGS*

Gene Symbol:ENG
Accession:NM_001278138
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEASQDMGRTLERRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWL
IDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQ
TTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMIS
NEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGG
TVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGC
TSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA*

Gene Symbol:ENG
Accession:NM_001114753
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLERRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSST
NHSIGSTQSTPCSTSSMA*

Gene Symbol:ENG
Accession:NM_000118
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLERRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTREYPRPPQ*
Variant Samples
Additional References at PubMed
PMID:16470787   PMID:16690726   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001366756 CLINVAR
dbSNP (RS) rs2131889336 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR