RGD:12834697 Rat Genome Database

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Variant: RGD:12834697 -  Homo sapiens

RGD ID: 12834697
RS ID: rs121913233
ClinVar ID: CV362912
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LOC127819987  LRRC56  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 533,874
GRCh38 11 533,874
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.6677A>T
NC_000011.10:g.533874T>A
NC_000011.9:g.533874T>A
NP_005334.1:p.Gln61Leu
More... 		03/06/2020 5 prime utr variant pathogenic|likely pathogenic|uncertain significance adult|all ages 1-5 / 10 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adenocarcinoma of prostate; Adenocarcinoma of stomach; AML adult; Breast Neoplasms; Breast tumor; Carcinoma, squamous cell of head and neck; Chronic lymphatic leukemia; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Faciocutaneoskeletal syndrome; FCS syndrome; Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatoma; Kahler disease; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Leukemia, B-cell, chronic; LIVER CELL CARCINOMA; Lung cancer, squamous cell, somatic; Malignant melanoma, somatic; Multiple myeloma, somatic; Myelomatosis; Neoplasm of breast; Neoplasm of the breast; Neoplasm of the thyroid gland; Plasma cell dyscrasia; Plasma cell myeloma; Primary carcinoma of liver; Squamous cell carcinoma of lung; Squamous cell carcinoma, head and neck, somatic

Variant Details
Variant Transcripts
Gene Symbol:HRAS
Accession:NM_001318054
Location:5UTRS;EXON

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

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_011519877
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_176795
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGSRSGSSSSS
GTLWDPPGPM*

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:LRRC56
Accession:XM_006718133
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22256804   PMID:22726224   PMID:25157968   PMID:26619011   PMID:27283355   PMID:28492532   PMID:31775759  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420395 CLINVAR
  RCV000420623 CLINVAR
  RCV000421690 CLINVAR
  RCV000421974 CLINVAR
  RCV000425694 CLINVAR
  RCV000426826 CLINVAR
  RCV000428206 CLINVAR
  RCV000428443 CLINVAR
  RCV000430634 CLINVAR
  RCV000433098 CLINVAR
  RCV000436845 CLINVAR
  RCV000437079 CLINVAR
  RCV000438263 CLINVAR
  RCV000438465 CLINVAR
  RCV000439626 CLINVAR
  RCV000445166 CLINVAR
  RCV000445204 CLINVAR
  RCV001255684 CLINVAR
  RCV001372584 CLINVAR
  RCV001849368 CLINVAR
dbSNP (RS) rs121913233 CLINVAR
MedGen C0007112 CLINVAR
  C0009404 CLINVAR
  C0023434 CLINVAR
  C0023467 CLINVAR
  C0026764 CLINVAR
  C0040136 CLINVAR
  C0149782 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C0153574 CLINVAR
  C0220641 CLINVAR
  C0278701 CLINVAR
  C0279680 CLINVAR
  C0281361 CLINVAR
  C0553723 CLINVAR
  C0587248 CLINVAR
  C1168401 CLINVAR
  C1458155 CLINVAR
  C2239176 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 114550 CLINVAR
  151400 CLINVAR
  190020 CLINVAR
  218040 CLINVAR
  254500 CLINVAR
  275355 CLINVAR
  601626 CLINVAR
  618227 CLINVAR
SNOMED CT 109989006 CLINVAR
  126837005 CLINVAR
  126926005 CLINVAR
  17788007 CLINVAR
  25370001 CLINVAR
  277473004 CLINVAR
  309776008 CLINVAR
  716659002 CLINVAR
  93655004 CLINVAR