RGD:8639364 Rat Genome Database

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Variant: RGD:8639364 -  Homo sapiens

RGD ID: 8639364
RS ID: rs398123155
ClinVar ID: CV98347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMD  LOC127898525  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,608,353
GRCh38 X 154,379,993
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008677.1:g.10558_10559insT
NC_000023.11:g.154379993_154379994insT
NC_000023.10:g.153608353_153608354insT
LRG_745t1:c.239_240insT
More... 		09/11/2013 frameshift variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:EMD
Accession:NM_000117
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGDADMYDLPKKV
DALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSA
YQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000078129 CLINVAR
dbSNP (RS) rs398123155 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EMD CLINVAR
OMIM 300384 CLINVAR