RGD:13479635 Rat Genome Database

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Variant: RGD:13479635 -  Homo sapiens

RGD ID: 13479635
RS ID: rs766909143
ClinVar ID: CV442535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 533,618
GRCh38 11 533,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005343.2:c.291-6T>G
NC_000011.9:g.533618A>C
LRG_506t1:c.291-6T>G
LRG_506:g.6933T>G
More... 		08/10/2020 intron variant benign|likely benign AllHighlyPenetrant; Bathing trunk nevus; Bladder cancer; Cancer predisposition; 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; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Jadassohn nevus phakomatosis; Linear nevus sebaceous; Linear nevus sebaceous syndrome; Linear sebaceous nevus sequence; Malignant tumor of urinary bladder; MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC; Neoplastic Syndromes, Hereditary; Nevus sebaceus of Jadassohn; Nevus, epidermal, somatic; NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, Sebaceous of Jadassohn; Noonan spectrum disorder; Organoid nevus phakomatosis; PIGMENTED MOLES; rasopathies; 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; Tumor predisposition; Urinary bladder cancer; Urinary Bladder Neoplasms
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LRRC56
Accession:XM_011519875
Location:5UTRS;INTRON

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

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

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

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

Gene Symbol:HRAS
Accession:NM_001318054
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_176795
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:HRAS
Accession:NM_001130442
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:HRAS
Accession:NM_005343
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 RCV000521008 CLINVAR
  RCV000872282 CLINVAR
  RCV001255585 CLINVAR
  RCV002257777 CLINVAR
  RCV002497006 CLINVAR
  RCV003962443 CLINVAR
dbSNP (RS) rs766909143 CLINVAR
MedGen C0027672 CLINVAR
  C0587248 CLINVAR
  C1842036 CLINVAR
  C5555857 CLINVAR
  CN169374 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
  699346009 CLINVAR