RGD:26889173 Rat Genome Database

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Variant: RGD:26889173 -  Homo sapiens

RGD ID: 26889173
RS ID: rs1767696253
ClinVar ID: CV851370
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 65,612,296
GRCh38 6 64,902,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023443.2:g.809823G>T
NC_000006.12:g.64902403C>A
NC_000006.11:g.65612296C>A
NM_001142800.2:c.2738+1G>T
More... 		01/10/2019 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:EYS
Accession:NM_001292009
Location:INTRON

Gene Symbol:EYS
Accession:NM_198283
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142800
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142801
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18836446   PMID:20333770   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001057986 CLINVAR
dbSNP (RS) rs1767696253 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EYS CLINVAR
OMIM 612424 CLINVAR