RGD:150543973 Rat Genome Database

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Variant: RGD:150543973 -  Homo sapiens

RGD ID: 150543973
RS ID: rs750721065
ClinVar ID: CV1310048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 533,328
GRCh38 11 533,328
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.7223G>A
NC_000011.10:g.533328C>T
NP_001304983.1:p.Pro54=
NP_789765.1:p.Gly161Arg
More... 		12/20/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LRRC56
Accession:XM_011519877
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_017017168
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_011519875
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_001318054
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCPWCWWGTSVTWLHALWNLGRLRTSPEATASPTSRPRPRPGRAAALALAPAPGPSGTPRDPCDPAAPRAGVEDAFYTL
VREIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_176795
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGSRSGSSSSS
WTLWDPPGPM*

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Gene Symbol:HRAS
Accession:NM_001130442
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:HRAS
Accession:NM_005343
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718133
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003238053 CLINVAR
dbSNP (RS) rs750721065 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 190020 CLINVAR
  618227 CLINVAR