RGD:126744278 Rat Genome Database

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Variant: RGD:126744278 -  Homo sapiens

RGD ID: 126744278
RS ID: rs1830425455
ClinVar ID: CV1028861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL162586.1  ENG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,581,936
GRCh38 9 127,819,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000118.3:c.1276G>A
LRG_589t1:c.1276G>A
NC_000009.12:g.127819657C>T
NP_000109.1:p.Val426Met
More... 		02/15/2020 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_000118
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEALVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTREYPRPPQ*

Gene Symbol:ENG
Accession:NM_001114753
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEALVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSST
NHSIGSTQSTPCSTSSMA*

Gene Symbol:ENG
Accession:NM_001278138
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWL
IDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQ
TTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMIS
NEALVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGG
TVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGC
TSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA*

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Gene Symbol:AL162586.1
Accession:NR_136302
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001351261 CLINVAR
dbSNP (RS) rs1830425455 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene AL162586.1 CLINVAR
  ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR