RGD:11601167 Rat Genome Database

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Variant: RGD:11601167 -  Homo sapiens

RGD ID: 11601167
RS ID: rs76002580
ClinVar ID: CV317838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FREM1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 14,868,984
GRCh38 9 14,868,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017005.2:g.46251C>G
NC_000009.12:g.14868986G>C
NC_000009.11:g.14868984G>C
NM_001379081.2:c.-9C>G
More... 		06/19/2019 5 prime utr variant benign|likely benign Manitoba Trichoanal syndrome; Marles Greenberg Persaud syndrome; Marles syndrome; none provided; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FREM1
Accession:XM_017014320
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014324
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014330
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NM_001370063
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422857
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422855
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422849
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014322
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014316
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422854
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NM_144966
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NM_001370065
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014328
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NM_001370060
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422847
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422845
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014329
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422848
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422852
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422851
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422856
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NM_001379081
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014325
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014319
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422844
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422850
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422853
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422858
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_017014321
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:XM_047422846
Location:5UTRS;EXON

Gene Symbol:FREM1
Accession:NR_163238
Location:EXON;NON-CODING

Gene Symbol:FREM1
Accession:NR_163241
Location:EXON;NON-CODING

Gene Symbol:FREM1
Accession:NR_163239
Location:EXON;NON-CODING

Gene Symbol:FREM1
Accession:NR_163240
Location:EXON;NON-CODING

Gene Symbol:FREM1
Accession:XM_047422859
Location:INTRON

Gene Symbol:FREM1
Accession:NM_001370058
Location:INTRON

Gene Symbol:FREM1
Accession:XM_017014326
Location:INTRON

Gene Symbol:FREM1
Accession:XM_011517758
Location:INTRON

Gene Symbol:FREM1
Accession:XM_006716729
Location:INTRON

Gene Symbol:FREM1
Accession:NM_001370061
Location:INTRON

Gene Symbol:FREM1
Accession:XM_017014327
Location:INTRON

Gene Symbol:FREM1
Accession:NM_001177704
Location:INTRON

Gene Symbol:FREM1
Accession:NR_163242
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280241 CLINVAR
  RCV001653758 CLINVAR
dbSNP (RS) rs76002580 CLINVAR
MedGen C1855425 CLINVAR
  C3661900 CLINVAR
NCBI Gene FREM1 CLINVAR
OMIM 248450 CLINVAR
  608944 CLINVAR