RGD:13609061 Rat Genome Database

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Variant: RGD:13609061 -  Homo sapiens

RGD ID: 13609061
RS ID: rs909905659
ClinVar ID: CV535369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGFR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 55,238,010
GRCh38 7 55,170,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005228.3:c.1881-858G>T
NG_007726.3:g.156286G>T
NM_001346897.2:c.1746-858G>T
NC_000007.14:g.55170317G>T
More...
08/02/2021 intron variant likely pathogenic|uncertain significance Arteriovenous malformations of the brain; Cancer predisposition; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EGFR
Accession:NM_201284
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 631
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLK
TIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKELPMRNLQEILHGAVRFSNNPALCNVE
SIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGC
TGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADSYEMEE
DGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKE
ITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKL
FGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHP
ECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGPGN*SLKAMLFCL
FKLSSCNQSNDGSVSHQSGSPAAQESCLGWIPSLLPSEFQLGWGGCSHLHAWPSASVIITASSCH*

Gene Symbol:EGFR
Accession:NM_001346898
Location:INTRON

Gene Symbol:EGFR
Accession:XM_047419953
Location:INTRON

Gene Symbol:EGFR
Accession:XM_047419952
Location:INTRON

Gene Symbol:EGFR
Accession:NM_201283
Location:INTRON

Gene Symbol:EGFR
Accession:NM_201282
Location:INTRON

Gene Symbol:EGFR
Accession:NM_005228
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346899
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346897
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346900
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346941
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000656335 CLINVAR
  RCV002258997 CLINVAR
dbSNP (RS) rs909905659 CLINVAR
MedGen C0027672 CLINVAR
  C0917804 CLINVAR
NCBI Gene EGFR CLINVAR
OMIM 108010 CLINVAR
  131550 CLINVAR
SNOMED CT 234142008 CLINVAR
  699346009 CLINVAR