RGD:13532814 Rat Genome Database

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Variant: RGD:13532814 -  Homo sapiens

RGD ID: 13532814
RS ID: rs770397572
ClinVar ID: CV505388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  LOC127830281  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 76,603,777
GRCh38 15 76,311,436
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.5034C>T
NC_000015.10:g.76311436G>A
NC_000015.9:g.76603777G>A
NM_001127716.2:c.-48C>T
More...
11/21/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ETFA
Accession:NM_000126
Location:5UTRS;EXON

Gene Symbol:ETFA
Accession:NM_001127716
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000601482 CLINVAR
dbSNP (RS) rs770397572 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 608053 CLINVAR