RGD:13615971 Rat Genome Database

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Variant: RGD:13615971 -  Homo sapiens

RGD ID: 13615971
RS ID: rs750637713
ClinVar ID: CV524499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL162586.1  ENG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,579,474
GRCh38 9 127,817,195
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009551.1:g.42574T>C
NC_000009.12:g.127817195A>G
NC_000009.11:g.130579474A>G
NM_000118.3:c.1695T>C
More... 		10/18/2023 non-coding transcript variant|synonymous variant benign|likely benign|uncertain significance ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; Osler Weber Rendu syndrome type 1; Osler-Rendu-Weber disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ENG
Accession:NM_001278138
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWL
IDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQ
TTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMIS
NEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGG
TVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGC
TSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA*

Gene Symbol:ENG
Accession:NM_000118
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTREYPRPPQ*

Gene Symbol:ENG
Accession:NM_001114753
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 565
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLEL
TLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLA
SIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQ
DQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSST
NHSIGSTQSTPCSTSSMA*

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

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000633166 CLINVAR
  RCV001166477 CLINVAR
  RCV002413814 CLINVAR
dbSNP (RS) rs750637713 CLINVAR
MedGen C0039445 CLINVAR
  C4551861 CLINVAR
  CN230736 CLINVAR
NCBI Gene 102723566 CLINVAR
  ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR