RGD:156052197 Rat Genome Database

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Variant: RGD:156052197 -  Homo sapiens

RGD ID: 156052197
ClinVar ID: CV2064605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LOC127819987  LRRC56  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 533,794
GRCh38 11 533,794
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_506t1:c.262A>G
NM_001318054.2:c.-58A>G
NM_001130442.3:c.262A>G
NM_005343.4:c.262A>G
More... 		07/10/2022 5 prime utr variant uncertain significance Faciocutaneoskeletal syndrome; FCS syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LRRC56
Accession:XM_011519877
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_017017168
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_176795
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTQSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGSRSGSSSSS
GTLWDPPGPM*

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTQSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTQSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002846474 CLINVAR
MedGen C0587248 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 190020 CLINVAR
  218040 CLINVAR
  618227 CLINVAR
SNOMED CT 309776008 CLINVAR