RGD:155645601 Rat Genome Database

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Variant: RGD:155645601 -  Homo sapiens

RGD ID: 155645601
ClinVar ID: CV1710939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFHR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 196,918,738
GRCh38 1 196,949,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005666.4:c.212C>T
NM_001312672.1:c.58+5670C>T
LRG_1216:g.10841C>T
NG_042816.1:g.10841C>T
More... 		10/01/2019 intron variant likely benign Atypical HUS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFHR2
Accession:NM_005666
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRIMCAEEGWSPT
PKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDI
TSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFV
CKSGYHPTKSHSFRAMCQNGKLVYPSCEEK*

Gene Symbol:CFHR2
Accession:XM_011509459
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRIMCAEEGWSPTPKCLRLCFFPFVENGHSESS
GQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQN
LYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNG
KLVYPSCEEK*

Gene Symbol:CFHR2
Accession:XM_011509458
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRIMCAEEGWSPT
PKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKFSAEKCGPPPPIDNGDITSFL
LSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSG
YHPTKSHSFRAMCQNGKLVYPSCEEK*

Gene Symbol:CFHR2
Accession:XM_017001109
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRIMCAEEGWSPT
PKCLISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNI
KLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK*

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CFHR2
Accession:XM_011509460
Location:INTRON

Gene Symbol:CFHR2
Accession:NM_001312672
Location:INTRON

Gene Symbol:CFHR2
Accession:NM_001410924
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002294720 CLINVAR
  RCV003418442 CLINVAR
MedGen C2931788 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFHR2 CLINVAR
OMIM 600889 CLINVAR