RGD:401770369 Rat Genome Database

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Variant: RGD:401770369 -  Homo sapiens

RGD ID: 401770369
ClinVar ID: CV2711114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 60,195,484
GRCh38 5 60,899,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_466t1:c.688A>G
NM_001290285.2:c.229A>G
NM_001007233.3:c.514A>G
NM_000082.4:c.688A>G
More... 		04/25/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC8
Accession:NM_001007233
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSGGSDGVIVLYDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVF
NFEETVYSHHMSPVSTKHCLVAVGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRR
ASGCLITLDQHDGKKSQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFT
VSCGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDETTTK
SQLNPAFEDAWSSSDEEG*

Gene Symbol:ERCC8
Accession:NM_000082
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYMLSGGSDGVIVLYDLENSSRQS
YYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVFNFEETVYSHHMSPVSTKHCLVA
VGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLITLDQHDGKKSQAVESA
NTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVSCGCSSEFVFVPYGSTIAVYT
VYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG*

Gene Symbol:ERCC8
Accession:NM_001290285
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYKYITIGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLITLDQHDGKK
SQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVSCGCSSEFVFVPYG
STIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSD
EEG*

Gene Symbol:ERCC8
Accession:NM_001007234
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003261062 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ERCC8 CLINVAR
OMIM 609412 CLINVAR