RGD:151714239 Rat Genome Database

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Variant: RGD:151714239 -  Homo sapiens

RGD ID: 151714239
RS ID: rs2133989896
ClinVar ID: CV1330556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HRAS  LRRC56  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 533,778
GRCh38 11 533,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_506t1:c.278T>C
NM_001318054.2:c.-42T>C
NM_001130442.3:c.278T>C
NM_005343.4:c.278T>C
More...
02/07/2022 5 prime utr variant uncertain significance Hypophosphatemic rickets; Parathyroid adenoma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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

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

Gene Symbol:LRRC56
Accession:XM_011519877
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_047426336
Location:5UTRS;INTRON

Gene Symbol:HRAS
Accession:NM_005343
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDSHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_001130442
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDSHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLV
REIRQHKLRKLNPPDESGPGCMSCKCVLS*

Gene Symbol:HRAS
Accession:NM_176795
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNTKSFEDSHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGSRSGSSSSS
GTLWDPPGPM*

Gene Symbol:LRRC56
Accession:NM_198075
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252775
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_005252776
Location:INTRON

Gene Symbol:LRRC56
Accession:XM_006718132
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:25741868   PMID:35738466  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001843332 CLINVAR
dbSNP (RS) rs2133989896 CLINVAR
MedGen C0262587 CLINVAR
NCBI Gene HRAS CLINVAR
  LRRC56 CLINVAR
OMIM 190020 CLINVAR
  618227 CLINVAR