RGD:13446001 Rat Genome Database

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Variant: RGD:13446001 -  Homo sapiens

RGD ID: 13446001
RS ID: rs769838321
ClinVar ID: CV437989
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  LOC127830281  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 76,603,693
GRCh38 15 76,311,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007077.2:g.5118G>A
NC_000015.10:g.76311352C>T
NC_000015.9:g.76603693C>T
NP_000117.1:p.Ala13Thr
More... 		09/30/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ETFA
Accession:NM_001127716
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRTVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEV
APISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDR
PELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAG
MKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK*

Gene Symbol:ETFA
Accession:NM_000126
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRTASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ
HDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD
EKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF
KVVPEMTEILKKK*

Gene Symbol:ETFA
Accession:XR_007064434
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000513143 CLINVAR
dbSNP (RS) rs769838321 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 608053 CLINVAR