RGD:155949365 Rat Genome Database

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Variant: RGD:155949365 -  Homo sapiens

RGD ID: 155949365
ClinVar ID: CV2267630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLRAD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 54,475,957
GRCh38 1 54,010,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276395.2:c.*4C>T
NM_001276394.2:c.200C>T
NM_001276393.2:c.338C>T
NM_001276392.2:c.350C>T
More...
04/08/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LDLRAD1
Accession:NM_001276395
Location:3UTRS;EXON

Gene Symbol:LDLRAD1
Accession:XM_017001264
Location:3UTRS;EXON

Gene Symbol:LDLRAD1
Accession:NM_001010978
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKVFPQGENGYTAAESKAHPGGEAGGGHLCCSRRGACLSASLLLLLATVAALIALVTILGLPSCTPGAQACITLTNRTG
FLCHDQRSCIPASGVCDGVRTCTHGEDEDESLCRDVPQSLPHFLVAHCGDPASWIYSDQKCDGTNNCGDCSDELSLVTVC
PPCGPGWWRCPSTFFKYCDCIPRHLCRDHVQHCSDWSDEYACPGP*

Gene Symbol:LDLRAD1
Accession:NM_001276392
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQGTRAELSAHSPSRAAGNRRHEQGLPPGAQACITLTNRTGFLCHDQRSCIPASGVCDGVRTCTHGEDEDESLCRDVPQS
LPHFLVAHCGDPASWIYSDQKCDGTNNCGDCSDELSLVTVCPPCGPGWWRCPSTFFKYCDCIPRHLCRDHVQHCSDWSDE
YACPGP*

Gene Symbol:LDLRAD1
Accession:NM_001276394
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKVFPQGENGYTAAESKAHPGGEGDVPQSLPHFLVAHCGDPASWIYSDQKCDGTNNCGDCSDELSLVTVCPPCGPGWWR
CPSTFFKYCDCIPRHLCRDHVQHCSDWSDEYACPGP*

Gene Symbol:LDLRAD1
Accession:NM_001276393
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKVFPQGENGYTAAESKAHPGGEGAQACITLTNRTGFLCHDQRSCIPASGVCDGVRTCTHGEDEDESLCRDVPQSLPHF
LVAHCGDPASWIYSDQKCDGTNNCGDCSDELSLVTVCPPCGPGWWRCPSTFFKYCDCIPRHLCRDHVQHCSDWSDEYACP
GP*

Gene Symbol:LDLRAD1
Accession:XM_011541446
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKVFPQGENGYTAAESKAHPGGEGGGHLCCSRRGACLSASLLLLLATVAALIALVTILGLPSCTPGAQACITLTNRTGF
LCHDQRSCIPASGVCDGVRTCTHGEDEDESLCRDVPQSLPHFLVAHCGDPASWIYSDQKCDGTNNCGDCSDELSLVTVCP
PCGPGWWRCPSTFFKYCDCIPRHLCRDHVQHCSDWSDEYACPGP*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004134182 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LDLRAD1 CLINVAR