RGD:14706147 Rat Genome Database

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Variant: RGD:14706147 -  Homo sapiens

RGD ID: 14706147
RS ID: rs1350889077
ClinVar ID: CV640154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 533,521
GRCh38 11 533,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130442.3:c.382C>T
NP_001123914.1:p.Arg128Trp
NP_005334.1:p.Arg128Trp
NM_005343.4:c.382C>T
More... 		10/04/2018 missense variant uncertain significance Faciocutaneoskeletal syndrome; FCS syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRRC56
Accession:XM_017017167
Location:5UTRS;INTRON

Gene Symbol:LRRC56
Accession:XM_011519875
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_011519877
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_001318054
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCPWCWWGTSVTWLHALWNLGRLRTSPEATASPTSRPRPRPGRAAALALAPAPGPSGTPRDPCDPAAPRAGVEDAFYTL
VREIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_176795
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGSRSGSSSSS
GTLWDPPGPM*

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718132
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718133
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_011519876
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000791901 CLINVAR
dbSNP (RS) rs1350889077 CLINVAR
MedGen C0587248 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 190020 CLINVAR
  218040 CLINVAR
  618227 CLINVAR
SNOMED CT 309776008 CLINVAR