RGD:401796357 Rat Genome Database

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Variant: RGD:401796357 -  Homo sapiens

RGD ID: 401796357
ClinVar ID: CV2740540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR2F1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 92,923,824
GRCh38 5 93,588,118
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410754.1:c.215T>C
NP_005645.1:p.Leu222Pro
NP_001397683.1:p.Leu72Pro
NC_000005.9:g.92923824T>C
More... 		10/27/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NR2F1
Accession:NM_005654
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQS
QQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGR
MPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICEPAARLLFSAVEWARNIPFF
PDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYS
CLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIE
TLIRDMLLSGSSFNWPYMSIQCS*

Gene Symbol:NR2F1
Accession:NM_001410754
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGYSVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICEPAARLLFSA
VEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLK
ALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFF
VRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003321210 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NR2F1 CLINVAR
OMIM 132890 CLINVAR