RGD:14397390 Rat Genome Database

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Variant: RGD:14397390 -  Homo sapiens

RGD ID: 14397390
RS ID: rs1569479610
ClinVar ID: CV613262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EBP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,382,437
GRCh38 X 48,524,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006579.3:c.278A>G
NG_007452.1:g.7274A>G
NC_000023.11:g.48524049A>G
NP_006570.1:p.Asp93Gly
More... 		09/30/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EBP
Accession:NM_006579
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIE
GWFVLYYEDLLGGQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIY
GDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000762632 CLINVAR
dbSNP (RS) rs1569479610 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EBP CLINVAR
OMIM 300205 CLINVAR