RGD:26909860 Rat Genome Database

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Variant: RGD:26909860 -  Homo sapiens

RGD ID: 26909860
RS ID: rs1928365871
ClinVar ID: CV857304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FRMD7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 131,231,293
GRCh38 X 132,097,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_867t1:c.284+1G>A
LRG_867:g.35758G>A
NG_012347.1:g.35758G>A
NC_000023.11:g.132097265C>T
More... 		11/27/2018 splice donor variant pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FRMD7
Accession:XM_017029948
Location:INTRON

Gene Symbol:FRMD7
Accession:XM_017029949
Location:INTRON

Gene Symbol:FRMD7
Accession:NM_001306193
Location:INTRON

Gene Symbol:FRMD7
Accession:XM_017029947
Location:INTRON

Gene Symbol:FRMD7
Accession:NM_194277
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001074068 CLINVAR
dbSNP (RS) rs1928365871 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene FRMD7 CLINVAR
OMIM 300628 CLINVAR
SNOMED CT 314407005 CLINVAR