RGD:156190143 Rat Genome Database

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Variant: RGD:156190143 -  Homo sapiens

RGD ID: 156190143
ClinVar ID: CV2301706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F2RL2  IQGAP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 75,914,327
GRCh38 5 76,618,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001285460.2:c.1371+7319T>C
NM_001256566.2:c.139A>G
NM_006633.5:c.1521+7319T>C
NM_001285461.2:c.180+7319T>C
More... 		09/26/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:F2RL2
Accession:NM_004101
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALIFAAAGLLLLLPTFCQSGMENDTNNLAKPTLPIKTFRGAPPNSFEEFPFSALEGWTGATITVKIQCPEESASHLHV
KNATMGYLTSSLSTKLIPAIYLLVFVVGVPANAVTLWMLFFRTRSICTTVFYTNLAIADFLFCVTLPFKIAYHLNGNNWV
FGEVLCRATTVIFYGNMYCSILLLACISINRYLAIVHPFTYRGLPKHTYALVTCGLVWATVFLYMLPFFILKQEYYLVQP
DITTCHDVHNTCESSSPFQLYYFISLAFFGFLIPFVLIIYCYAAIIRTLNAYDHRWLWYVKASLLILVIFTICFAPSNII
LIIHHANYYYNNTDGLYFIYLIALCLGSLNSCLDPFLYFLMSKTRNHSTAYLTK*

Gene Symbol:F2RL2
Accession:NM_001256566
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENDTNNLAKPTLPIKTFRGAPPNSFEEFPFSALEGWTGATITVKIQCPEESASHLHVKNATMGYLTSSLSTKLIPAIYL
LVFVVGVPANAVTLWMLFFRTRSICTTVFYTNLAIADFLFCVTLPFKIAYHLNGNNWVFGEVLCRATTVIFYGNMYCSIL
LLACISINRYLAIVHPFTYRGLPKHTYALVTCGLVWATVFLYMLPFFILKQEYYLVQPDITTCHDVHNTCESSSPFQLYY
FISLAFFGFLIPFVLIIYCYAAIIRTLNAYDHRWLWYVKASLLILVIFTICFAPSNIILIIHHANYYYNNTDGLYFIYLI
ALCLGSLNSCLDPFLYFLMSKTRNHSTAYLTK*

Gene Symbol:IQGAP2
Accession:NM_006633
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_005248410
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_005248414
Location:INTRON

Gene Symbol:IQGAP2
Accession:NM_001285460
Location:INTRON

Gene Symbol:IQGAP2
Accession:NM_001285462
Location:INTRON

Gene Symbol:IQGAP2
Accession:NM_001285461
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_011543108
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_017008960
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_024454336
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_047416641
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_047416643
Location:INTRON

Gene Symbol:IQGAP2
Accession:XM_047416642
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002892488 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene F2RL2 CLINVAR
  IQGAP2 CLINVAR
OMIM 601919 CLINVAR
  605401 CLINVAR