RGD:9832733 Rat Genome Database

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Variant: RGD:9832733 -  Homo sapiens

RGD ID: 9832733
RS ID: rs372936166
ClinVar ID: CV48917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 532,698
GRCh38 11 532,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007666.1:g.7853A>T
NC_000011.10:g.532698T>A
NC_000011.9:g.532698T>A
NP_005334.1:p.Lys170Ter
More... 		06/27/2019 3 prime utr variant|nonsense likely benign|uncertain significance Bathing trunk nevus; Bladder cancer; Congenital giant melanocytic nevus; Congenital giant pigmented nevus; Congenital melanocytic nevus - large; Costello syndrome; Epidermal nevus; Faciocutaneoskeletal syndrome; FCS syndrome; Giant congenital nevus; Giant hairy nevus; Giant pigmented hairy nevus; Jadassohn nevus phakomatosis; Linear nevus sebaceous; Linear nevus sebaceous syndrome; Linear sebaceous nevus sequence; Malignant tumor of urinary bladder; MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC; Nevus sebaceus of Jadassohn; Nevus, epidermal, somatic; NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, Sebaceous of Jadassohn; none provided; Organoid nevus phakomatosis; PIGMENTED MOLES; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; Sebaceous nevus syndrome and hemimegalencephaly; SFM syndrome; Thyroid cancer, nonmedullary, 2; THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO; Thyroid carcinoma, follicular, somatic; Urinary bladder cancer; Urinary Bladder Neoplasms
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

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

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

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

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

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

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_001318054
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCPWCWWGTSVTWLHALWNLGRLRTSPEATASPTSRPRPRPGRAAALALAPAPGPSGTPRDPCDPAAPRAGVEDAFYTL
VREIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:LRRC56
Accession:XM_005252775
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_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718133
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000157909 CLINVAR
  RCV000551172 CLINVAR
  RCV002477044 CLINVAR
dbSNP (RS) rs372936166 CLINVAR
MedGen C0587248 CLINVAR
  C1842036 CLINVAR
  C3661900 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 109800 CLINVAR
  137550 CLINVAR
  162900 CLINVAR
  163200 CLINVAR
  188470 CLINVAR
  190020 CLINVAR
  218040 CLINVAR
  618227 CLINVAR
SNOMED CT 309776008 CLINVAR
  52298009 CLINVAR