RGD:8608144 Rat Genome Database

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Variant: RGD:8608144 -  Homo sapiens

RGD ID: 8608144
RS ID: rs140060409
ClinVar ID: CV48916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 532,729
GRCh38 11 532,729
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007666.1:g.7822G>A
NC_000011.10:g.532729C>T
NC_000011.9:g.532729C>T
NP_005334.1:p.Leu159=
More... 		03/21/2019 3 prime utr variant|synonymous variant benign|likely benign|conflicting interpretations of pathogenicity antenatal <1 / 1 000 000 AllHighlyPenetrant; Cancer predisposition; Faciocutaneoskeletal syndrome; FCS syndrome; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Noonan spectrum disorder; rasopathies; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HRAS
Accession:NM_176795
Location:3UTRS;EXON

Gene Symbol:LRRC56
Accession:XM_017017168
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_011519875
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_017017167
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_047426336
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_011519877
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTFV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_001318054
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCPWCWWGTSVTWLHALWNLGRLRTSPEATASPTSRPRPRPGRAAALALAPAPGPSGTPRDPCDPAAPRAGVEDAFYTF
VREIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTFV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:LRRC56
Accession:XM_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718133
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000038465 CLINVAR
  RCV000234776 CLINVAR
  RCV000522477 CLINVAR
  RCV001538584 CLINVAR
  RCV001813238 CLINVAR
  RCV002257372 CLINVAR
  RCV002336104 CLINVAR
dbSNP (RS) rs140060409 CLINVAR
MedGen C0027672 CLINVAR
  C0587248 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
  C5681679 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 190020 CLINVAR
  218040 CLINVAR
  618227 CLINVAR
SNOMED CT 309776008 CLINVAR
  699346009 CLINVAR